L727R (p.Leu727Arg) variant of ACTN2 (Alpha-actinin-2)
L727R (p.Leu727Arg) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Myopathy, congenital, with structured cores and z-line abnormalities. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
L727R (p.Leu727Arg) variant details
- p.Leu727Arg
- rs1572148902
- ClinGen CA345388702
- ClinVar RCV000855691
- UniProt VAR 083366
- Pathogenic/Likely pathogenic
- Myopathy, congenital, with structured cores and z-line abnormalities
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.97
- MetaLR 0.58
- MetaSVM 0.30
- PolyPhen-2 0.75
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Myopathy, congenital, with structured cores and z-line abnormali)
- EBI: Pathogenic (in CMYO8)
- UniProt: Pathogenic (in CMYO8)
- Structural context available
- Cited in: ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). (PMID 30701273)