E31K (p.Glu31Lys) variant of LMNA (Prelamin-A/C)
E31K (p.Glu31Lys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs1228406418
- ClinGen CA342807397
- NCI-TCGA Cosmic COSV6154
- cosmic curated COSV61544
- Pathogenic
- not provided; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (not provided; Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)