A29V (p.Ala29Val) variant of FOXP2 (Forkhead box protein P2)
A29V (p.Ala29Val) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- NCI-TCGA Cosmic COSV6348
- cosmic curated COSV63483
- NCI-TCGA Cosmic COSV6349
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.23
- CADD 23.70
- PolyPhen-2 0.84
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available