M94T (p.Met94Thr) variant of CASK (O14936)
M94T (p.Met94Thr) 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 0.58 / 1. The record also includes population frequency data and structural context.
M94T (p.Met94Thr) variant details
- p.Met94Thr
- rs2147736309
- ClinGen CA413003136
- ClinVar RCV002221926
- Ensembl rs2147736309
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.59
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available