D9N (p.Asp9Asn) variant of JPH2 (Junctophilin-2)
D9N (p.Asp9Asn) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- gnomAD rs1440864056
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.25
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available