R8H (p.Arg8His) variant of SIRT7 (Q9NRC8)
R8H (p.Arg8His) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- ExAC rs776754109
- TOPMed rs776754109
- gnomAD rs776754109
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.15
- ESM-1b 0.41
- AlphaMissense 0.88
- MetaLR 0.15
- MetaSVM -0.84
- CADD 26.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available