D11Y (p.Asp11Tyr) variant of MYL3 (Myosin light chain 3)
D11Y (p.Asp11Tyr) 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 0.45 / 1. The record also includes structural context.
D11Y (p.Asp11Tyr) variant details
- p.Asp11Tyr
- rs1326582665
- ClinGen CA352499865
- ClinVar RCV003749964
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.15
- MetaLR 0.46
- MetaSVM -0.76
- PolyPhen-2 0.00
- SIFT 0.14
- MutPred 0.21
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available