R19K (p.Arg19Lys) variant of SIRT7 (Q9NRC8)
R19K (p.Arg19Lys) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R19K (p.Arg19Lys) variant details
- p.Arg19Lys
- TOPMed rs1445386878
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.03
- MetaSVM -1.07
- CADD 20.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available