Q2H (p.Gln2His) variant of CNTNAP2 (Q9UHC6)
Q2H (p.Gln2His) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q2H (p.Gln2His) variant details
- p.Gln2His
- gnomAD 7-146116882-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- MetaLR 0.42
- MetaSVM -0.54
- CADD 19.20
- PolyPhen-2 0.04
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available