E10Q (p.Glu10Gln) variant of SIRT7 (Q9NRC8)
E10Q (p.Glu10Gln) 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 0.27 / 1. The record also includes population frequency data and structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- NCI-TCGA Cosmic COSV1001
- ExAC rs766270177
- TOPMed rs766270177
- gnomAD rs766270177
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.10
- CADD 20.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available