R16Q (p.Arg16Gln) variant of SIRT7 (Q9NRC8)
R16Q (p.Arg16Gln) in SIRT7 (Q9NRC8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs890363805
- ClinGen CA8844987
- ClinVar RCV004455956
- TOPMed rs890363805
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00036)
- Structural context available