R49Q (p.Arg49Gln) variant of SIRT7 (Q9NRC8)
R49Q (p.Arg49Gln) 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 0.25 / 1. The record also includes population frequency data and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- ExAC rs755215990
- TOPMed rs755215990
- gnomAD rs755215990
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.05
- ESM-1b 0.10
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.04
- CADD 21.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00024)
- Structural context available