F48L (p.Phe48Leu) variant of CASK (O14936)
F48L (p.Phe48Leu) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F48L (p.Phe48Leu) variant details
- p.Phe48Leu
- cosmic curated COSV59364
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.30
- CADD 23.80
- PolyPhen-2 0.86
- SIFT 0.35
- Population evidence available
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.249