G57R (p.Gly57Arg) variant of MYL2 (P10916)
G57R (p.Gly57Arg) 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 0.83 / 1. The record also includes published literature and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- rs2428140
- TOPMed rs2428140
- ClinGen CA386699152
- ClinVar RCV001308163
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.65
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance (in dbSNP:rs2428140)
- UniProt: Uncertain significance (in dbSNP:rs2428140)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)