P26R (p.Pro26Arg) variant of MYL3 (Myosin light chain 3)
P26R (p.Pro26Arg) 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 Cardiomyopathy. 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.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- rs1702011145
- ClinGen CA352499662
- ClinVar RCV001182449
- Ensembl rs1702011145
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.12
- CADD 13.20
- PolyPhen-2 0.09
- SIFT 0.13
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)