R28S (p.Arg28Ser) variant of SIRT7 (Q9NRC8)
R28S (p.Arg28Ser) 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.
R28S (p.Arg28Ser) variant details
- p.Arg28Ser
- ExAC rs778117109
- TOPMed rs778117109
- gnomAD rs778117109
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.08
- ESM-1b 0.38
- AlphaMissense 0.39
- MetaLR 0.05
- MetaSVM -1.10
- CADD 23.10
- Most common in the South Asian population (allele frequency 5.2e-05)
- Structural context available