S19C (p.Ser19Cys) variant of MYL2 (P10916)
S19C (p.Ser19Cys) 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; Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- rs2071704028
- ClinGen CA386700270
- ClinVar RCV001185608
- ClinVar RCV001317123
- Uncertain significance
- Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.69
- MetaLR 0.71
- MetaSVM 0.62
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.44
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy; Car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)