Q30E (p.Gln30Glu) variant of LMNA (Prelamin-A/C)
Q30E (p.Gln30Glu) 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 0.82 / 1. The record also includes published literature and structural context.
Q30E (p.Gln30Glu) variant details
- p.Gln30Glu
- rs2102817413
- ClinGen CA342807364
- ClinVar RCV001968068
- Ensembl rs2102817413
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- ESM-1b 1.00
- AlphaMissense 0.60
- 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)