E142G (p.Glu142Gly) variant of SIRT7 (Q9NRC8)
E142G (p.Glu142Gly) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E142G (p.Glu142Gly) variant details
- p.Glu142Gly
- TOPMed rs1312225068
- gnomAD rs1312225068
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.04
- MetaSVM -1.10
- CADD 22.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available