L49R (p.Leu49Arg) variant of FOXP2 (Forkhead box protein P2)
L49R (p.Leu49Arg) in FOXP2 (Forkhead box protein P2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L49R (p.Leu49Arg) variant details
- p.Leu49Arg
- gnomAD 7-114426657-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.44
- MetaLR 0.90
- MetaSVM 1.02
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available