E34K (p.Glu34Lys) variant of MYL3 (Myosin light chain 3)
E34K (p.Glu34Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- rs1702010735
- cosmic curated COSV10462
- ClinGen CA352499570
- cosmic curated COSV10808
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.50
- CADD 21.30
- PolyPhen-2 0.37
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available