G12V (p.Gly12Val) variant of MYL2 (P10916)
G12V (p.Gly12Val) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs762584624
- ClinGen CA042285
- cosmic curated COSV99960
- ClinVar RCV001524052
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.56
- AlphaMissense 0.34
- MetaLR 0.54
- MetaSVM 0.10
- CADD 22.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy 10; Hypertrophic car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)