R140G (p.Arg140Gly) variant of CASK (O14936)
R140G (p.Arg140Gly) 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.
R140G (p.Arg140Gly) variant details
- p.Arg140Gly
- rs2147718784
- ClinGen CA413002801
- ClinVar RCV001593357
- Ensembl rs2147718784
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.68
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available