A3G (p.Ala3Gly) variant of SIRT7 (Q9NRC8)
A3G (p.Ala3Gly) 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.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- ExAC rs778568164
- TOPMed rs778568164
- gnomAD rs778568164
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.70
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available