E74D (p.Glu74Asp) variant of RRAD (GTP-binding protein RAD)
E74D (p.Glu74Asp) in RRAD (GTP-binding protein RAD) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E74D (p.Glu74Asp) variant details
- p.Glu74Asp
- rs1367652753
- ClinGen CA396245024
- ClinVar RCV004352037
- TOPMed rs1367652753
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.30
- PolyPhen-2 0.03
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available