R30C (p.Arg30Cys) variant of SIRT7 (Q9NRC8)
R30C (p.Arg30Cys) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- gnomAD rs1464979906
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.44
- MetaLR 0.10
- MetaSVM -1.01
- CADD 28.40
- Most common in the Latino/Admixed American population (allele frequency 3.1e-05)
- Structural context available