M59V (p.Met59Val) variant of MYL3 (Myosin light chain 3)
M59V (p.Met59Val) 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 not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
M59V (p.Met59Val) variant details
- p.Met59Val
- rs1575498261
- ClinGen CA352498626
- ClinVar RCV003066245
- ClinVar RCV004593143
- Uncertain significance
- not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.10
- MetaLR 0.18
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.43
- EVE 0.07
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available