L35V (p.Leu35Val) variant of LMNA (Prelamin-A/C)
L35V (p.Leu35Val) 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 0.99 / 1. The record also includes published literature and structural context.
L35V (p.Leu35Val) variant details
- p.Leu35Val
- rs56694480
- ClinGen CA016462
- ClinVar RCV000057217
- UniProt VAR 039752
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. (PMID 14684700)
- Cited in: Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene… (PMID 22431096)