R34G (p.Arg34Gly) variant of MYPN (Myopalladin)
R34G (p.Arg34Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- rs746431976
- ClinGen CA5522223
- ClinVar RCV004465241
- ExAC rs746431976
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 0.40
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available