A11T (p.Ala11Thr) variant of CNTNAP2 (Q9UHC6)
A11T (p.Ala11Thr) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- gnomAD 7-146116907-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.40
- MetaLR 0.64
- MetaSVM 0.05
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available