A60S (p.Ala60Ser) variant of FOXP2 (Forkhead box protein P2)
A60S (p.Ala60Ser) 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, published literature, and structural context.
A60S (p.Ala60Ser) variant details
- p.Ala60Ser
- gnomAD 7-114534626-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.21
- MetaLR 0.77
- MetaSVM 0.68
- CADD 25.40
- PolyPhen-2 0.84
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available