I17F (p.Ile17Phe) variant of CNTNAP2 (Q9UHC6)
I17F (p.Ile17Phe) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I17F (p.Ile17Phe) variant details
- p.Ile17Phe
- gnomAD 7-146116925-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.26
- MetaLR 0.46
- MetaSVM -0.57
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available