E10K (p.Glu10Lys) variant of SIRT7 (Q9NRC8)
E10K (p.Glu10Lys) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- ExAC rs766270177
- TOPMed rs766270177
- gnomAD rs766270177
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.05
- MetaSVM -1.10
- CADD 21.90
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available