E42G (p.Glu42Gly) variant of SIRT7 (Q9NRC8)
E42G (p.Glu42Gly) 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.
E42G (p.Glu42Gly) variant details
- p.Glu42Gly
- Ensembl rs1598344810
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.06
- MetaSVM -1.11
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available