M137V (p.Met137Val) variant of JPH2 (Junctophilin-2)
M137V (p.Met137Val) in JPH2 (Junctophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
M137V (p.Met137Val) variant details
- p.Met137Val
- gnomAD rs1353491705
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.33
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available