A104V (p.Ala104Val) variant of JPH2 (Junctophilin-2)
A104V (p.Ala104Val) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A104V (p.Ala104Val) variant details
- p.Ala104Val
- gnomAD rs1368091949
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.35
- CADD 29.60
- PolyPhen-2 0.89
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available