A3S (p.Ala3Ser) variant of SIRT7 (Q9NRC8)
A3S (p.Ala3Ser) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- ExAC rs771920520
- TOPMed rs771920520
- gnomAD rs771920520
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.05
- MetaSVM -1.08
- CADD 21.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available