R49G (p.Arg49Gly) variant of SIRT7 (Q9NRC8)
R49G (p.Arg49Gly) 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 0.28 / 1. The record also includes population frequency data and structural context.
R49G (p.Arg49Gly) variant details
- p.Arg49Gly
- 1000Genomes rs779335102
- ExAC rs779335102
- TOPMed rs779335102
- gnomAD rs779335102
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.08
- CADD 20.70
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.1e-05)
- Structural context available