H51R (p.His51Arg) variant of FOXP2 (Forkhead box protein P2)
H51R (p.His51Arg) in FOXP2 (Forkhead box protein P2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
H51R (p.His51Arg) variant details
- p.His51Arg
- gnomAD 7-114426663-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.49
- MetaLR 0.83
- MetaSVM 0.84
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available