R25G (p.Arg25Gly) variant of PLN (Phospholamban)
R25G (p.Arg25Gly) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- rs761056344
- ClinGen CA335499
- ClinVar RCV000183817
- ClinVar RCV001852372
- Uncertain significance
- not provided; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.71
- MetaLR 0.54
- MetaSVM 0.14
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1P)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)