A6V (p.Ala6Val) variant of FOXP2 (Forkhead box protein P2)
A6V (p.Ala6Val) in FOXP2 (Forkhead box protein P2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- cosmic curated COSV63491
- ExAC rs764109995
- gnomAD rs764109995
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.39
- CADD 24.00
- PolyPhen-2 0.51
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available