T106R (p.Thr106Arg) variant of SIRT7 (Q9NRC8)
T106R (p.Thr106Arg) 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 0.70 / 1. The record also includes population frequency data and structural context.
T106R (p.Thr106Arg) variant details
- p.Thr106Arg
- rs1297769126
- ClinGen CA401530422
- ClinVar RCV004357645
- TOPMed rs1297769126
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.34
- MetaSVM 0.10
- CADD 33.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available