I17N (p.Ile17Asn) variant of CNTNAP2 (Q9UHC6)
I17N (p.Ile17Asn) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I17N (p.Ile17Asn) variant details
- p.Ile17Asn
- gnomAD 7-146116926-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.33
- MetaLR 0.46
- MetaSVM -0.44
- CADD 23.40
- PolyPhen-2 0.05
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available