R28C (p.Arg28Cys) variant of SIRT7 (Q9NRC8)
R28C (p.Arg28Cys) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- ExAC rs778117109
- TOPMed rs778117109
- gnomAD rs778117109
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.10
- MetaSVM -1.01
- CADD 28.30
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available