H43R (p.His43Arg) variant of MYPN (Myopalladin)
H43R (p.His43Arg) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H43R (p.His43Arg) variant details
- p.His43Arg
- rs752439535
- ClinGen CA5522232
- ClinVar RCV002008229
- ClinVar RCV003170380
- Uncertain significance
- Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.10
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available