D80E (p.Asp80Glu) variant of SIRT7 (Q9NRC8)
D80E (p.Asp80Glu) in SIRT7 (Q9NRC8) is a missense change. 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.
D80E (p.Asp80Glu) variant details
- p.Asp80Glu
- TOPMed rs1598344521
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.06
- MetaSVM -1.16
- CADD 19.07
- Most common in the HGDP:KALASH population (allele frequency 0.21)
- Structural context available