T27S (p.Thr27Ser) variant of CNTNAP2 (Q9UHC6)
T27S (p.Thr27Ser) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T27S (p.Thr27Ser) variant details
- p.Thr27Ser
- gnomAD 7-146116955-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.20
- MetaLR 0.40
- MetaSVM -0.47
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available