V17M (p.Val17Met) variant of MYL2 (P10916)
V17M (p.Val17Met) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Myopathy, myofibrillar, 12, infantile-onset, with card. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- rs730880943
- ClinGen CA010480
- ClinVar RCV000158912
- ClinVar RCV000241994
- Uncertain significance
- Cardiovascular phenotype; Myopathy, myofibrillar, 12, infantile-onset, with card
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.72
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myopathy, myofibrillar, 12, infantile-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- 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)