D81E (p.Asp81Glu) variant of SIRT7 (Q9NRC8)
D81E (p.Asp81Glu) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D81E (p.Asp81Glu) variant details
- p.Asp81Glu
- TOPMed rs1318474799
- gnomAD rs1318474799
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.02
- MetaSVM -1.03
- CADD 19.37
- Most common in the Ashkenazi Jewish population (allele frequency 0.00027)
- Structural context available