R8S (p.Arg8Ser) variant of SIRT7 (Q9NRC8)
R8S (p.Arg8Ser) in SIRT7 (Q9NRC8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- rs2040843541
- ClinGen CA401531196
- ClinVar RCV004455952
- gnomAD rs2040843541
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.89
- MetaLR 0.12
- MetaSVM -0.90
- CADD 25.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available