I17T (p.Ile17Thr) variant of CNTNAP2 (Q9UHC6)
I17T (p.Ile17Thr) 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.
I17T (p.Ile17Thr) variant details
- p.Ile17Thr
- gnomAD 7-146116926-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.28
- MetaLR 0.51
- MetaSVM -0.51
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available