T106I (p.Thr106Ile) variant of SIRT7 (Q9NRC8)
T106I (p.Thr106Ile) in SIRT7 (Q9NRC8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
T106I (p.Thr106Ile) variant details
- p.Thr106Ile
- TOPMed rs1297769126
- gnomAD rs1297769126
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.30
- MetaSVM -0.11
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available