P65R (p.Pro65Arg) variant of MYL3 (Myosin light chain 3)
P65R (p.Pro65Arg) 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 0.73 / 1. The record also includes population frequency data and structural context.
P65R (p.Pro65Arg) variant details
- p.Pro65Arg
- rs730880955
- ClinGen CA013649
- ClinVar RCV000158941
- ClinVar RCV002415694
- Uncertain significance
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.70
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available