Is KDR p.Val848= (c.2544G>T) pathogenic?

KDR p.Val848= (c.2544G>T) is classified Uncertain significance in KDR (ClinVar, No assertion criteria, 1 submitter; last evaluated 2015-01-24). Absent from gnomAD v4.1; Associated with colon carcinoma.

What condition is associated with KDR p.Val848= (c.2544G>T)?

KDR p.Val848= (c.2544G>T) is associated with colon carcinoma (ClinVar).

How common is KDR p.Val848= (c.2544G>T) in the general population?

KDR p.Val848= (c.2544G>T) is absent from gnomAD v4.1 (gnomAD).

KDR p.Val848=

c.2544G>T · rs795902899 · VCV204333

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

colon carcinoma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.7	GERP 0.76, phastCons 1
Overall
CADD	9.19	PHRED · no single calibrated threshold — expert panels disagree

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: KDR
Protein: p.Val848=
Coding: c.2544G>T
MANE Select: NM_002253
dbSNP: rs795902899
Type: single nucleotide variant
Location: chr4:55097732 (GRCh38)
Gene constraint: LOEUF 0.328 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 71.67 · 54 PDB
Residue 848: the protein kinase domain; a binding site; a β-strand; a UniProt-annotated variant site (strongly reduced autophosphorylation and kinase activity)

Full KDR 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

KDR c.2509+20T>A Uncertain significance same condition
KDR c.2615-23C>T Uncertain significance same condition
KDR c.3405-4C>T Uncertain significance same condition
KDR p.Ala866= Uncertain significance same condition
KDR p.Glu1155= Uncertain significance same condition
KDR p.Gly794Arg Uncertain significance ⚠ same condition
KDR p.Ile892= Uncertain significance same condition
KDR p.Leu1163Phe 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/kdr-p-val848 (accessed [today's date]).

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