T528K (p.Thr528Lys) variant of LMNA (Prelamin-A/C)
T528K (p.Thr528Lys) 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 Charcot-Marie-Tooth disease type 2; not provided; Hutchinson-Gilford syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
T528K (p.Thr528Lys) variant details
- p.Thr528Lys
- rs57629361
- ClinGen CA017504
- ClinVar RCV000057328
- ClinVar RCV000201062
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; not provided; Hutchinson-Gilford syndrome
- 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 (Charcot-Marie-Tooth disease type 2; not provided; Hutchinson-Gil)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. (PMID 10739764)
- Cited in: Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the… (PMID 10939567)