A28T (p.Ala28Thr) variant of CNTNAP2 (Q9UHC6)
A28T (p.Ala28Thr) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- gnomAD 7-146116958-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.18
- MetaLR 0.47
- MetaSVM -0.33
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available