R34C (p.Arg34Cys) variant of SIRT7 (Q9NRC8)
R34C (p.Arg34Cys) in SIRT7 (Q9NRC8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- rs1348487595
- TOPMed rs1348487595
- gnomAD rs1348487595
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.07
- MetaSVM -1.09
- CADD 30.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.1e-05)
- Structural context available