L915P (p.Leu915Pro) variant of MYH7 (Myosin-7)
L915P (p.Leu915Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary familial hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
L915P (p.Leu915Pro) variant details
- p.Leu915Pro
- rs397516166
- ClinGen CA013003
- ClinVar RCV000035818
- ClinVar RCV000845298
- Likely pathogenic
- Primary familial hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (Primary familial hypertrophic cardiomyopathy; Hypertrophic cardi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)