R61L (p.Arg61Leu) variant of CASK (O14936)
R61L (p.Arg61Leu) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R61L (p.Arg61Leu) variant details
- p.Arg61Leu
- cosmic curated COSV59365
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.58
- CADD 23.70
- PolyPhen-2 0.09
- SIFT 0.03
- Population evidence available
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.421