R34Q (p.Arg34Gln) variant of MYPN (Myopalladin)
R34Q (p.Arg34Gln) 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; MYPN-related myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs730880168
- ClinGen CA346533
- cosmic curated COSV62734
- ClinVar RCV000157382
- Uncertain significance
- Dilated cardiomyopathy 1KK; Cardiovascular phenotype; MYPN-related myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.17
- CADD 23.90
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK; Cardiovascular phenotype; MYPN-relat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)