A128T (p.Ala128Thr) variant of CASK (O14936)
A128T (p.Ala128Thr) in CASK (O14936) 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 and structural context.
A128T (p.Ala128Thr) variant details
- p.Ala128Thr
- cosmic curated COSV59376
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 1.98
- Population evidence available
- Structural context available