A20V (p.Ala20Val) variant of MYL3 (Myosin light chain 3)
A20V (p.Ala20Val) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD rs1016864366
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.36
- CADD 22.90
- PolyPhen-2 0.31
- SIFT 0.15
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available