A3V (p.Ala3Val) variant of SIRT7 (Q9NRC8)
A3V (p.Ala3Val) 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.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- ExAC rs778568164
- TOPMed rs778568164
- gnomAD rs778568164
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.07
- ESM-1b 0.34
- AlphaMissense 0.28
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.30
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available