C146Y (p.Cys146Tyr) variant of CASK (O14936)
C146Y (p.Cys146Tyr) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
C146Y (p.Cys146Tyr) variant details
- p.Cys146Tyr
- rs2067197487
- ClinGen CA412999100
- ClinVar RCV001572166
- Ensembl rs2067197487
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 1.00
- MetaLR 0.24
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.48
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available