R73Q (p.Arg73Gln) variant of SIRT7 (Q9NRC8)
R73Q (p.Arg73Gln) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- gnomAD rs2040835558
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.05
- CADD 23.50
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available