P27R (p.Pro27Arg) variant of MYL3 (Myosin light chain 3)
P27R (p.Pro27Arg) 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 8; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- rs1210373907
- ClinGen CA352499652
- ClinVar RCV001181009
- ClinVar RCV005414571
- Uncertain significance
- Hypertrophic cardiomyopathy 8; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.29
- CADD 18.90
- PolyPhen-2 0.14
- SIFT 0.23
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 8; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)