L49V (p.Leu49Val) variant of FOXP2 (Forkhead box protein P2)
L49V (p.Leu49Val) in FOXP2 (Forkhead box protein P2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- gnomAD 7-114426656-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.25
- MetaLR 0.91
- MetaSVM 1.03
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available