T150P (p.Thr150Pro) variant of LMNA (Prelamin-A/C)
T150P (p.Thr150Pro) 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 Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; Primary dilated car. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
T150P (p.Thr150Pro) variant details
- p.Thr150Pro
- rs58917027
- ClinGen CA018114
- ClinVar RCV000041350
- ClinVar RCV000057407
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; Primary dilated car
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; Pri)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. (PMID 10908904)
- Cited in: Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA… (PMID 20848652)