A99V (p.Ala99Val) variant of SIRT7 (Q9NRC8)
A99V (p.Ala99Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A99V (p.Ala99Val) variant details
- p.Ala99Val
- ExAC rs781407219
- TOPMed rs781407219
- gnomAD rs781407219
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.12
- MetaSVM -0.90
- CADD 32.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available