I17V (p.Ile17Val) variant of CNTNAP2 (Q9UHC6)
I17V (p.Ile17Val) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- gnomAD 7-146116925-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.17
- MetaLR 0.40
- MetaSVM -0.73
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available