E10D (p.Glu10Asp) variant of SIRT7 (Q9NRC8)
E10D (p.Glu10Asp) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- ExAC rs760658546
- TOPMed rs760658546
- gnomAD rs760658546
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.07
- ESM-1b 0.05
- AlphaMissense 0.27
- MetaLR 0.05
- MetaSVM -1.08
- CADD 16.45
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available