K12E (p.Lys12Glu) variant of SIRT7 (Q9NRC8)
K12E (p.Lys12Glu) 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.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- gnomAD rs1212662716
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.76
- MetaLR 0.17
- MetaSVM -0.87
- CADD 24.10
- Population evidence available
- Structural context available