R58Q (p.Arg58Gln) variant of MYL2 (P10916)
R58Q (p.Arg58Gln) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R58Q (p.Arg58Gln) variant details
- p.Arg58Gln
- rs104894369
- ClinGen CA009915
- ClinVar RCV000015111
- ClinVar RCV000157369
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.57
- AlphaMissense 0.35
- MetaLR 0.28
- MetaSVM -0.35
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Pathogenic (in CMH10)
- UniProt: Pathogenic (in CMH10)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+… (PMID 11102452)
- Cited in: Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in… (PMID 12404107)