R43C (p.Arg43Cys) variant of SIRT7 (Q9NRC8)
R43C (p.Arg43Cys) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- ExAC rs778204773
- gnomAD rs778204773
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.14
- MetaSVM -0.90
- CADD 29.50
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available