S7N (p.Ser7Asn) variant of SIRT7 (Q9NRC8)
S7N (p.Ser7Asn) in SIRT7 (Q9NRC8) is a missense change. 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.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- ExAC rs765331941
- TOPMed rs765331941
- gnomAD rs765331941
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.04
- ESM-1b 0.89
- AlphaMissense 0.36
- MetaLR 0.06
- MetaSVM -1.11
- CADD 22.50
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available