E69K (p.Glu69Lys) variant of SIRT7 (Q9NRC8)
E69K (p.Glu69Lys) in SIRT7 (Q9NRC8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- rs1408812376
- gnomAD rs1408812376
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.02
- MetaSVM -1.01
- CADD 22.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available