E2E (p.Glu2Glu) variant of LMNA (Prelamin-A/C)
E2E (p.Glu2Glu) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- rs896190740
- gnomAD 1-156126218-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 17.50
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available