R27G (p.Arg27Gly) variant of MYPN (Myopalladin)
R27G (p.Arg27Gly) 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 0.22 / 1. The record also includes population frequency data and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- rs754754810
- ClinGen CA5522215
- ClinVar RCV001065413
- ExAC rs754754810
- Uncertain significance
- Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.09
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available