A12T (p.Ala12Thr) variant of CNTNAP2 (Q9UHC6)
A12T (p.Ala12Thr) 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.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD 7-146116910-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.25
- MetaLR 0.44
- MetaSVM -0.39
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available