R58L (p.Arg58Leu) variant of MYL2 (P10916)
R58L (p.Arg58Leu) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
R58L (p.Arg58Leu) variant details
- p.Arg58Leu
- rs104894369
- ClinGen CA386698863
- ClinVar RCV000639677
- ClinVar RCV001575874
- Likely pathogenic
- not provided; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.35
- MetaLR 0.28
- MetaSVM -0.35
- PolyPhen-2 1.00
- SIFT 0.14
- ClinVar: Likely pathogenic (not provided; Hypertrophic cardiomyopathy 10)
- EBI: Pathogenic (in CMH10)
- UniProt: Pathogenic (in CMH10)
- 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)