A14T (p.Ala14Thr) variant of LMNA (Prelamin-A/C)
A14T (p.Ala14Thr) 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; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs755617982
- ClinGen CA053373
- ClinVar RCV002577738
- ExAC rs755617982
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.28
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)