S134N (p.Ser134Asn) variant of SIRT7 (Q9NRC8)
S134N (p.Ser134Asn) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S134N (p.Ser134Asn) variant details
- p.Ser134Asn
- ExAC rs778687363
- TOPMed rs778687363
- gnomAD rs778687363
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -0.97
- CADD 12.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available