A39E (p.Ala39Glu) variant of SIRT7 (Q9NRC8)
A39E (p.Ala39Glu) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A39E (p.Ala39Glu) variant details
- p.Ala39Glu
- TOPMed rs955461072
- gnomAD rs955461072
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available