E23K (p.Glu23Lys) variant of SIRT7 (Q9NRC8)
E23K (p.Glu23Lys) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- TOPMed rs2040841661
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available