A20S (p.Ala20Ser) variant of MYL3 (Myosin light chain 3)
A20S (p.Ala20Ser) 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 0.42 / 1. The record also includes population frequency data and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- rs1384774790
- ClinGen CA352499736
- ClinVar RCV004009870
- gnomAD rs1384774790
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.34
- CADD 16.40
- PolyPhen-2 0.19
- SIFT 0.54
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available