V165L (p.Val165Leu) variant of CASK (O14936)
V165L (p.Val165Leu) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
V165L (p.Val165Leu) variant details
- p.Val165Leu
- rs1057521754
- ClinGen CA16608929
- ClinVar RCV000427392
- Ensembl rs1057521754
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.20
- MetaLR 0.16
- MetaSVM -0.85
- PolyPhen-2 0.15
- SIFT 0.19
- EVE 0.10
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available