R31H (p.Arg31His) variant of MYL3 (Myosin light chain 3)
R31H (p.Arg31His) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R31H (p.Arg31His) variant details
- p.Arg31His
- rs199639940
- ClinGen CA045250
- cosmic curated COSV52767
- ClinVar RCV000221537
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.25
- CADD 4.21
- PolyPhen-2 0.09
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Cardiomyopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)