I116V (p.Ile116Val) variant of SIRT7 (Q9NRC8)
I116V (p.Ile116Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I116V (p.Ile116Val) variant details
- p.Ile116Val
- ExAC rs764725749
- TOPMed rs764725749
- gnomAD rs764725749
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.19
- MetaSVM -0.61
- CADD 26.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available