T56I (p.Thr56Ile) variant of CASK (O14936)
T56I (p.Thr56Ile) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- cosmic curated COSV59361
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.35
- CADD 21.90
- PolyPhen-2 0.34
- SIFT 0.72
- Population evidence available
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.131