D11V (p.Asp11Val) variant of MYL3 (Myosin light chain 3)
D11V (p.Asp11Val) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D11V (p.Asp11Val) variant details
- p.Asp11Val
- rs1227232995
- ClinGen CA352499854
- ClinVar RCV001314472
- ClinVar RCV003166794
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available