V51I (p.Val51Ile) variant of JPH2 (Junctophilin-2)
V51I (p.Val51Ile) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- ExAC rs574925943
- gnomAD rs574925943
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.04
- CADD 21.50
- PolyPhen-2 0.08
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available