A54S (p.Ala54Ser) variant of MYL2 (P10916)
A54S (p.Ala54Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
A54S (p.Ala54Ser) variant details
- p.Ala54Ser
- rs1171745073
- ClinGen CA386699186
- ClinVar RCV001973723
- ClinVar RCV006550793
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.99
- MetaLR 0.32
- MetaSVM -0.44
- PolyPhen-2 0.03
- SIFT 0.02
- MutPred 0.62
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy 10)
- 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)