G55R (p.Gly55Arg) variant of MYPN (Myopalladin)
G55R (p.Gly55Arg) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1KK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G55R (p.Gly55Arg) variant details
- p.Gly55Arg
- rs2042243448
- ClinGen CA377103733
- ClinVar RCV001217056
- NCI-TCGA TCGA novel
- Uncertain significance
- Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.08
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available