R63P (p.Arg63Pro) variant of MYL3 (Myosin light chain 3)
R63P (p.Arg63Pro) 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 provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R63P (p.Arg63Pro) variant details
- p.Arg63Pro
- rs139354105
- ClinGen CA013628
- ClinVar RCV000158940
- ClinVar RCV000991351
- Uncertain significance
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.75
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available