R90Q (p.Arg90Gln) variant of SIRT7 (Q9NRC8)
R90Q (p.Arg90Gln) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R90Q (p.Arg90Gln) variant details
- p.Arg90Gln
- TOPMed rs2040831502
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.95
- CADD 12.72
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available