T27I (p.Thr27Ile) variant of LMNA (Prelamin-A/C)
T27I (p.Thr27Ile) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital muscular dystrophy due to LMNA mutation; Dilated cardiomyopathy 1A; C. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
T27I (p.Thr27Ile) variant details
- p.Thr27Ile
- rs863225270
- ClinGen CA342807313
- cosmic curated COSV61542
- ClinVar RCV000991275
- Likely pathogenic
- Congenital muscular dystrophy due to LMNA mutation; Dilated cardiomyopathy 1A; C
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Congenital muscular dystrophy due to LMNA mutation; Dilated card)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)