G5C (p.Gly5Cys) variant of SIRT7 (Q9NRC8)
G5C (p.Gly5Cys) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- Ensembl rs2040843908
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.09
- ESM-1b 0.51
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.10
- CADD 22.70
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available