S32T (p.Ser32Thr) variant of CNTNAP2 (Q9UHC6)
S32T (p.Ser32Thr) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S32T (p.Ser32Thr) variant details
- p.Ser32Thr
- gnomAD 7-146116970-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.14
- MetaLR 0.45
- MetaSVM -0.44
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available