V101M (p.Val101Met) variant of MYH6 (Myosin-6)
V101M (p.Val101Met) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V101M (p.Val101Met) variant details
- p.Val101Met
- rs1004123964
- ClinVar RCV004645775
- ClinVar RCV006474332
- TOPMed rs1004123964
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.80
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)