T70S (p.Thr70Ser) variant of FOXP2 (Forkhead box protein P2)
T70S (p.Thr70Ser) in FOXP2 (Forkhead box protein P2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T70S (p.Thr70Ser) variant details
- p.Thr70Ser
- gnomAD 7-114534656-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.70
- CADD 22.60
- PolyPhen-2 0.37
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available