E31E (p.Glu31Glu) variant of LMNA (Prelamin-A/C)
E31E (p.Glu31Glu) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E31E (p.Glu31Glu) variant details
- p.Glu31Glu
- rs878855235
- gnomAD 1-156115011-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 15.90
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Literature evidence available