A54V (p.Ala54Val) variant of MYL2 (P10916)
A54V (p.Ala54Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- rs2136773989
- ClinGen CA386699182
- ClinVar RCV001805350
- ClinVar RCV001869536
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.53
- MetaLR 0.33
- MetaSVM -0.33
- PolyPhen-2 0.83
- SIFT 0.04
- MutPred 0.61
- ClinVar: Uncertain significance (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)