V61M (p.Val61Met) variant of MYL2 (P10916)
V61M (p.Val61Met) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V61M (p.Val61Met) variant details
- p.Val61Met
- rs730880949
- ClinGen CA009922
- ClinVar RCV000158924
- ClinVar RCV001241595
- Uncertain significance
- not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.66
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)