G5V (p.Gly5Val) variant of SIRT7 (Q9NRC8)
G5V (p.Gly5Val) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- ExAC rs751933545
- gnomAD rs751933545
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.08
- CADD 18.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available