D139N (p.Asp139Asn) variant of SIRT7 (Q9NRC8)
D139N (p.Asp139Asn) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D139N (p.Asp139Asn) variant details
- p.Asp139Asn
- 1000Genomes rs538629892
- ExAC rs538629892
- TOPMed rs538629892
- gnomAD rs538629892
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.05
- MetaSVM -1.10
- CADD 23.00
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available