E47K (p.Glu47Lys) variant of SIRT7 (Q9NRC8)
E47K (p.Glu47Lys) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- 1000Genomes rs556305559
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.13
- MetaSVM -0.89
- CADD 28.20
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available