G48D (p.Gly48Asp) variant of SIRT7 (Q9NRC8)
G48D (p.Gly48Asp) 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.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- gnomAD rs1371859864
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.03
- ESM-1b 0.03
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.08
- CADD 20.40
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- Structural context available