T24I (p.Thr24Ile) variant of LMNA (Prelamin-A/C)
T24I (p.Thr24Ile) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2B1; Mandibuloa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T24I (p.Thr24Ile) variant details
- p.Thr24Ile
- rs1195524446
- ClinGen CA342807236
- ClinVar RCV001529465
- ClinVar RCV002495854
- Uncertain significance
- Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2B1; Mandibuloa
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 25.90
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type)
- EBI: Variant of uncertain significance (in EDMD3)
- UniProt: Uncertain significance (in EDMD3)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)