M59L (p.Met59Leu) variant of MYL3 (Myosin light chain 3)
M59L (p.Met59Leu) 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 MYL3-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
M59L (p.Met59Leu) variant details
- p.Met59Leu
- rs1575498261
- ClinGen CA352498619
- ClinVar RCV001891871
- Ensembl rs1575498261
- Uncertain significance
- MYL3-related disorder; Cardiovascular phenotype
- 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 (MYL3-related disorder; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available