E46G (p.Glu46Gly) variant of SIRT7 (Q9NRC8)
E46G (p.Glu46Gly) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E46G (p.Glu46Gly) variant details
- p.Glu46Gly
- gnomAD rs1312168926
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.10
- MetaSVM -1.00
- CADD 27.50
- Most common in the Middle Eastern population (allele frequency 0.00027)
- Structural context available