M94I (p.Met94Ile) variant of CASK (O14936)
M94I (p.Met94Ile) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M94I (p.Met94Ile) variant details
- p.Met94Ile
- rs2519520842
- ClinGen CA413003134
- ClinVar RCV003322090
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.34
- CADD 23.50
- PolyPhen-2 0.71
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available