K32T (p.Lys32Thr) variant of LMNA (Prelamin-A/C)
K32T (p.Lys32Thr) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital muscular dystrophy due to LMNA mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
K32T (p.Lys32Thr) variant details
- p.Lys32Thr
- rs2527830691
- ClinGen CA342807435
- ClinVar RCV003326722
- Pathogenic
- Congenital muscular dystrophy due to LMNA mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (Congenital muscular dystrophy due to LMNA mutation)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available