R16L (p.Arg16Leu) variant of SIRT7 (Q9NRC8)
R16L (p.Arg16Leu) 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 0.32 / 1. The record also includes population frequency data and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- rs890363805
- ClinGen CA401531097
- ClinVar RCV004156798
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.10
- ESM-1b 0.16
- AlphaMissense 0.24
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available