R49W (p.Arg49Trp) variant of SIRT7 (Q9NRC8)
R49W (p.Arg49Trp) 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 0.31 / 1. The record also includes population frequency data and structural context.
R49W (p.Arg49Trp) variant details
- p.Arg49Trp
- 1000Genomes rs779335102
- ExAC rs779335102
- TOPMed rs779335102
- gnomAD rs779335102
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.10
- CADD 26.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available