K100E (p.Lys100Glu) variant of SIRT7 (Q9NRC8)
K100E (p.Lys100Glu) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K100E (p.Lys100Glu) variant details
- p.Lys100Glu
- gnomAD rs1390911716
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.01
- ESM-1b 0.39
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.07
- CADD 17.84
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available