C487R (p.Cys487Arg) variant of ACTN2 (Alpha-actinin-2)
C487R (p.Cys487Arg) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Myopathy, distal, 6, adult-onset, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
C487R (p.Cys487Arg) variant details
- p.Cys487Arg
- rs1572140109
- ClinGen CA345383973
- ClinVar RCV000855694
- UniProt VAR 083365
- Likely pathogenic
- Myopathy, distal, 6, adult-onset, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.99
- MetaLR 0.27
- MetaSVM -0.53
- PolyPhen-2 0.99
- SIFT 0.05
- EVE 0.34
- ClinVar: Likely pathogenic (Myopathy, distal, 6, adult-onset, autosomal dominant)
- EBI: Pathogenic (in MPD6)
- UniProt: Pathogenic (in MPD6)
- Structural context available
- Cited in: Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. (PMID 30900782)