E79D (p.Glu79Asp) variant of LCAT (P04180)
E79D (p.Glu79Asp) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E79D (p.Glu79Asp) variant details
- p.Glu79Asp
- ExAC rs756818645
- TOPMed rs756818645
- gnomAD rs756818645
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.21
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.87
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available