A57V (p.Ala57Val) variant of MYL3 (Myosin light chain 3)
A57V (p.Ala57Val) 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; Hypertrophic cardiomyopathy 8; Hypertrophic cardiomyop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- rs139794067
- ClinGen CA73779525
- ClinVar RCV000792858
- ClinVar RCV002397569
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 8; Hypertrophic cardiomyop
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.68
- CADD 28.60
- PolyPhen-2 0.60
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 8; Hypertr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)