Q130R (p.Gln130Arg) variant of SIRT7 (Q9NRC8)
Q130R (p.Gln130Arg) in SIRT7 (Q9NRC8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
Q130R (p.Gln130Arg) variant details
- p.Gln130Arg
- gnomAD rs1236525311
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.04
- MetaSVM -1.12
- CADD 23.10
- Structural context available