G8C (p.Gly8Cys) variant of CNTNAP2 (Q9UHC6)
G8C (p.Gly8Cys) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- gnomAD 7-146116898-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.39
- MetaLR 0.51
- MetaSVM -0.23
- CADD 23.70
- PolyPhen-2 0.51
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available