A32P (p.Ala32Pro) variant of RRAD (GTP-binding protein RAD)
A32P (p.Ala32Pro) in RRAD (GTP-binding protein RAD) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- TOPMed rs1001060859
- gnomAD rs1001060859
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available