F23S (p.Phe23Ser) variant of CASK (O14936)
F23S (p.Phe23Ser) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F23S (p.Phe23Ser) variant details
- p.Phe23Ser
- cosmic curated COSV59368
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.74
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- CASK PDZ domain domainome 1.0: score 0.128