P22R (p.Pro22Arg) variant of DES (Desmin)
P22R (p.Pro22Arg) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1I; Neurogenic scapuloperoneal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P22R (p.Pro22Arg) variant details
- p.Pro22Arg
- rs748158450
- ClinGen CA2125012
- ClinVar RCV000818028
- ClinVar RCV002478908
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1I; Neurogenic scapuloperoneal
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.28
- CADD 15.20
- PolyPhen-2 0.21
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1I; Neurogenic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of… (PMID 25313375)