S42T (p.Ser42Thr) variant of FOXP2 (Forkhead box protein P2)
S42T (p.Ser42Thr) in FOXP2 (Forkhead box protein P2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S42T (p.Ser42Thr) variant details
- p.Ser42Thr
- gnomAD 7-114426635-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.12
- MetaLR 0.64
- MetaSVM 0.07
- CADD 22.80
- PolyPhen-2 0.70
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available