G45R (p.Gly45Arg) variant of MYPN (Myopalladin)
G45R (p.Gly45Arg) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1KK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- rs1297861595
- ClinGen CA377103675
- ClinVar RCV001927820
- ClinVar RCV003167091
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.05
- CADD 20.00
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available