T40N (p.Thr40Asn) variant of FOXP2 (Forkhead box protein P2)
T40N (p.Thr40Asn) in FOXP2 (Forkhead box protein P2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T40N (p.Thr40Asn) variant details
- p.Thr40Asn
- gnomAD 7-114426630-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.21
- MetaLR 0.86
- MetaSVM 0.88
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available