R18P (p.Arg18Pro) variant of SIRT7 (Q9NRC8)
R18P (p.Arg18Pro) 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.
R18P (p.Arg18Pro) variant details
- p.Arg18Pro
- TOPMed rs929144539
- gnomAD rs929144539
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.03
- MetaSVM -1.06
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available