R31C (p.Arg31Cys) variant of MYL3 (Myosin light chain 3)
R31C (p.Arg31Cys) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R31C (p.Arg31Cys) variant details
- p.Arg31Cys
- rs377026344
- ClinGen CA014106
- ClinVar RCV000036035
- ClinVar RCV000766485
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.18
- CADD 20.60
- PolyPhen-2 0.17
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)