A375T (p.Ala375Thr) variant of LMNA (Prelamin-A/C)
A375T (p.Ala375Thr) 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; Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A375T (p.Ala375Thr) variant details
- p.Ala375Thr
- rs879254162
- ClinGen CA10584126
- cosmic curated COSV61542
- ClinVar RCV000235905
- Uncertain significance
- Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.94
- MetaSVM 1.06
- CADD 30.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)