G8S (p.Gly8Ser) variant of CNTNAP2 (Q9UHC6)
G8S (p.Gly8Ser) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- gnomAD 7-146116898-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.17
- MetaLR 0.33
- MetaSVM -0.68
- CADD 19.50
- PolyPhen-2 0.04
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available