R120Q (p.Arg120Gln) variant of SIRT7 (Q9NRC8)
R120Q (p.Arg120Gln) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R120Q (p.Arg120Gln) variant details
- p.Arg120Gln
- ExAC rs202234407
- gnomAD rs202234407
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.48
- MetaSVM 0.45
- CADD 33.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available