G12S (p.Gly12Ser) variant of MYL2 (P10916)
G12S (p.Gly12Ser) 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; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- rs730880937
- ClinGen CA386700314
- ClinVar RCV001192326
- ClinVar RCV001859164
- Uncertain significance
- Hypertrophic cardiomyopathy 10; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.40
- CADD 22.20
- PolyPhen-2 0.99
- SIFT 0.52
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10; Cardiomyopathy)
- 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)