S7I (p.Ser7Ile) variant of SIRT7 (Q9NRC8)
S7I (p.Ser7Ile) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S7I (p.Ser7Ile) variant details
- p.Ser7Ile
- ExAC rs765331941
- TOPMed rs765331941
- gnomAD rs765331941
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.06
- MetaSVM -1.10
- CADD 23.20
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available