T19S (p.Thr19Ser) variant of LMNA (Prelamin-A/C)
T19S (p.Thr19Ser) 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 Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- rs2527829852
- ClinGen CA342807111
- ClinVar RCV003829804
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 6.10
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)