G8V (p.Gly8Val) variant of CNTNAP2 (Q9UHC6)
G8V (p.Gly8Val) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- gnomAD 7-146116899-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.30
- MetaLR 0.44
- MetaSVM -0.55
- CADD 21.00
- PolyPhen-2 0.09
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available