G5A (p.Gly5Ala) variant of SIRT7 (Q9NRC8)
G5A (p.Gly5Ala) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- ExAC rs751933545
- gnomAD rs751933545
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.08
- CADD 17.97
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available