T24S (p.Thr24Ser) variant of LMNA (Prelamin-A/C)
T24S (p.Thr24Ser) 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 Cardiovascular phenotype; Cardiomyopathy; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T24S (p.Thr24Ser) variant details
- p.Thr24Ser
- rs1195524446
- ClinGen CA342807231
- ClinVar RCV000798982
- ClinVar RCV002370101
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Charcot-Marie-Tooth di)
- EBI: Pathogenic (in EDMD3)
- UniProt: Pathogenic (in EDMD3)
- Population evidence available
- Structural context available
- Cited in: Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a… (PMID 27234031)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)