G36S (p.Gly36Ser) variant of JPH2 (Junctophilin-2)
G36S (p.Gly36Ser) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G36S (p.Gly36Ser) variant details
- p.Gly36Ser
- cosmic curated COSV10943
- ExAC rs764421421
- gnomAD rs764421421
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.29
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available