W42R (p.Trp42Arg) variant of JPH2 (Junctophilin-2)
W42R (p.Trp42Arg) in JPH2 (Junctophilin-2) is a missense change. 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.
W42R (p.Trp42Arg) variant details
- p.Trp42Arg
- gnomAD rs1248902481
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available