V59M (p.Val59Met) variant of MYL2 (P10916)
V59M (p.Val59Met) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
V59M (p.Val59Met) variant details
- p.Val59Met
- rs2071674789
- ClinGen CA386698862
- ClinVar RCV001049441
- Ensembl rs2071674789
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.20
- MetaLR 0.21
- MetaSVM -0.71
- PolyPhen-2 0.76
- SIFT 0.13
- MutPred 0.41
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)