T7R (p.Thr7Arg) variant of FOXP2 (Forkhead box protein P2)
T7R (p.Thr7Arg) 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.
T7R (p.Thr7Arg) variant details
- p.Thr7Arg
- gnomAD 7-114426531-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.20
- MetaLR 0.82
- MetaSVM 0.77
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available