G31S (p.Gly31Ser) variant of JPH2 (Junctophilin-2)
G31S (p.Gly31Ser) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G31S (p.Gly31Ser) variant details
- p.Gly31Ser
- cosmic curated COSV10888
- gnomAD rs1433674454
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.31
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available