F133L (p.Phe133Leu) variant of JPH2 (Junctophilin-2)
F133L (p.Phe133Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
F133L (p.Phe133Leu) variant details
- p.Phe133Leu
- NCI-TCGA Cosmic COSV1008
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.39
- CADD 26.20
- PolyPhen-2 0.83
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available