Is FLT4 p.Asp834Glu (c.2502T>A) pathogenic?

FLT4 p.Asp834Glu (c.2502T>A) is classified Uncertain significance in FLT4 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2015-01-24). AlphaMissense: ambiguous (0.5397); Absent from gnomAD v4.1; Associated with colon carcinoma.

What condition is associated with FLT4 p.Asp834Glu (c.2502T>A)?

FLT4 p.Asp834Glu (c.2502T>A) is associated with colon carcinoma (ClinVar).

How common is FLT4 p.Asp834Glu (c.2502T>A) in the general population?

FLT4 p.Asp834Glu (c.2502T>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about FLT4 p.Asp834Glu (c.2502T>A)?

AlphaMissense predicts ambiguous (score 0.5397) — an in-silico prediction, not a clinical call.

FLT4 p.Asp834Glu

c.2502T>A · rs796052101 · VCV204344

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.5397 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

colon carcinoma

Computational evidence

Protein change
AlphaMissense	0.5397	ambiguous
REVEL	0.565	indeterminate
SaProt	LLR -9.41	tolerated
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -1.5	GERP -3.9
Regional constraint	o/e 0.86	unconstrained · MANE · 15 kb · p 1.4e-05 · regional, not allelic
Overall
CADD	13.5	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: FLT4
Protein: p.Asp834Glu
Coding: c.2502T>A
MANE Select: NM_182925
dbSNP: rs796052101
Type: single nucleotide variant
Location: chr5:180620213 (GRCh38)
Gene constraint: LOEUF 0.265 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 72.82 · 2 PDB
Residue 834: a UniProt-annotated variant site (in chtd7)

Full FLT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

colon carcinoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

FLT4 p.Asp834Asn Likely benign ★ ⚠ same residue
FLT4 p.Ala702Ser Uncertain significance ★★ ⚠ same condition
FLT4 p.Pro641Ser Benign/Likely benign ★★ same condition
FLT4 c.2407-7C>T Uncertain significance same condition
FLT4 c.2542+12A>G Uncertain significance same condition
FLT4 c.3002-9A>C Uncertain significance same condition
FLT4 p.Ala1022Val Uncertain significance ⚠ same condition
FLT4 p.Gly811= Uncertain significance same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/flt4-p-asp834glu (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown