F37S (p.Phe37Ser) variant of MYL3 (Myosin light chain 3)
F37S (p.Phe37Ser) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
F37S (p.Phe37Ser) variant details
- p.Phe37Ser
- rs2106914314
- ClinGen CA352499523
- ClinVar RCV001979662
- ClinVar RCV005445521
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- AlphaMissense 0.97
- MetaLR 0.76
- MetaSVM 0.54
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.24
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available