Is ITGAV p.Phe434= (c.1302T>C) pathogenic?

ITGAV p.Phe434= (c.1302T>C) is classified Likely benign in ITGAV (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-02-15). Absent from gnomAD v4.1; Associated with ITGAV-related disorder.

What condition is associated with ITGAV p.Phe434= (c.1302T>C)?

ITGAV p.Phe434= (c.1302T>C) is associated with ITGAV-related disorder (ClinVar).

How common is ITGAV p.Phe434= (c.1302T>C) in the general population?

ITGAV p.Phe434= (c.1302T>C) is absent from gnomAD v4.1 (gnomAD).

ITGAV p.Phe434=

c.1302T>C · rs2468390167 · VCV3061170

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

ITGAV-related disorder

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 -1.2	GERP -5.9, phastCons 0.001
Overall
CADD	6.75	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: ITGAV
Protein: p.Phe434=
Coding: c.1302T>C
MANE Select: NM_002210
dbSNP: rs2468390167
Type: single nucleotide variant
Location: chr2:186646828 (GRCh38)
Gene constraint: LOEUF 0.807 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.21 · 59 PDB
Residue 434: a β-strand

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

Disease context

ITGAV-related disorder

Similar variants

ITGAV c.903+1G>C Likely pathogenic ★ same condition
ITGAV p.Asp379Val Pathogenic ★ same condition
ITGAV p.Trp144Cys Pathogenic ★ same condition
ITGAV c.2247-1G>A Pathogenic/Likely pathogenic same condition
ITGAV c.802+8G>A Likely benign same condition
ITGAV c.*2T>C Likely benign same condition
ITGAV p.Arg351= Likely benign same condition
ITGAV p.Asn414= Likely benign 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/itgav-p-phe434 (accessed [today's date]).

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