G48C (p.Gly48Cys) variant of SIRT7 (Q9NRC8)
G48C (p.Gly48Cys) 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.
G48C (p.Gly48Cys) variant details
- p.Gly48Cys
- gnomAD rs1430406166
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.04
- CADD 22.20
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available