T27S (p.Thr27Ser) variant of LMNA (Prelamin-A/C)
T27S (p.Thr27Ser) 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 Paroxysmal familial ventricular fibrillation; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T27S (p.Thr27Ser) variant details
- p.Thr27Ser
- rs863225270
- ClinGen CA279587
- ClinVar RCV000201884
- ClinVar RCV002517317
- Uncertain significance
- Paroxysmal familial ventricular fibrillation; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.76
- ESM-1b 0.00
- AlphaMissense 0.44
- CADD 18.60
- PolyPhen-2 0.05
- SIFT 1.00
- ClinVar: Uncertain significance (Paroxysmal familial ventricular fibrillation; Charcot-Marie-Toot)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)