R8L (p.Arg8Leu) variant of SIRT7 (Q9NRC8)
R8L (p.Arg8Leu) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- ExAC rs776754109
- TOPMed rs776754109
- gnomAD rs776754109
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.68
- MetaLR 0.10
- MetaSVM -0.94
- CADD 24.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available