T528R (p.Thr528Arg) variant of LMNA (Prelamin-A/C)
T528R (p.Thr528Arg) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
T528R (p.Thr528Arg) variant details
- p.Thr528Arg
- rs57629361
- ClinGen CA017510
- ClinVar RCV000057329
- ClinVar RCV000472329
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; no)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. (PMID 14684700)
- Cited in: Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA… (PMID 20848652)