W18L (p.Trp18Leu) variant of JPH2 (Junctophilin-2)
W18L (p.Trp18Leu) in JPH2 (Junctophilin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
W18L (p.Trp18Leu) variant details
- p.Trp18Leu
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.66
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available