R15H (p.Arg15His) variant of DES (Desmin)
R15H (p.Arg15His) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- TOPMed rs962731426
- gnomAD rs962731426
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.50
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available