V18G (p.Val18Gly) variant of CNTNAP2 (Q9UHC6)
V18G (p.Val18Gly) 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.
V18G (p.Val18Gly) variant details
- p.Val18Gly
- gnomAD 7-146116929-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.31
- MetaLR 0.38
- MetaSVM -0.51
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available