R31S (p.Arg31Ser) variant of MYL3 (Myosin light chain 3)
R31S (p.Arg31Ser) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R31S (p.Arg31Ser) variant details
- p.Arg31Ser
- rs377026344
- ClinGen CA352499607
- ClinVar RCV001971038
- ESP rs377026344
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.13
- CADD 15.20
- PolyPhen-2 0.02
- SIFT 0.50
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available