E2Q (p.Glu2Gln) variant of LMNA (Prelamin-A/C)
E2Q (p.Glu2Gln) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- gnomAD 1-156114922-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.36
- MetaLR 0.33
- MetaSVM -0.41
- CADD 23.30
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available