I26V (p.Ile26Val) variant of LMNA (Prelamin-A/C)
I26V (p.Ile26Val) 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 0.22 / 1. The record also includes published literature and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- rs1302425397
- ClinGen CA342807270
- ClinVar RCV002300019
- gnomAD rs1302425397
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- ESM-1b 0.01
- AlphaMissense 0.68
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)