A22S (p.Ala22Ser) variant of MYL3 (Myosin light chain 3)
A22S (p.Ala22Ser) 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 0.48 / 1. The record also includes structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- rs1427839320
- ClinGen CA352499714
- ClinVar RCV003587385
- gnomAD rs1427839320
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.12
- MetaLR 0.50
- MetaSVM -0.49
- PolyPhen-2 0.34
- SIFT 0.24
- MutPred 0.19
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available