A14E (p.Ala14Glu) variant of LMNA (Prelamin-A/C)
A14E (p.Ala14Glu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- rs1256334293
- ClinGen CA342806964
- ClinVar RCV001663671
- TOPMed rs1256334293
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available