S55R (p.Ser55Arg) variant of CASK (O14936)
S55R (p.Ser55Arg) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S55R (p.Ser55Arg) variant details
- p.Ser55Arg
- gnomAD rs1210711127
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.49
- CADD 25.50
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.0613