M59I (p.Met59Ile) variant of MYL3 (Myosin light chain 3)
M59I (p.Met59Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M59I (p.Met59Ile) variant details
- p.Met59Ile
- rs1246379576
- ClinGen CA352498612
- ClinVar RCV004017030
- gnomAD rs1246379576
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.19
- CADD 16.60
- PolyPhen-2 0.05
- SIFT 0.15
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available