A4T (p.Ala4Thr) variant of CNTNAP2 (Q9UHC6)
A4T (p.Ala4Thr) 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.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- gnomAD 7-146116886-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.10
- MetaLR 0.39
- MetaSVM -0.66
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available