A55D (p.Ala55Asp) variant of RRAD (GTP-binding protein RAD)
A55D (p.Ala55Asp) 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 0.25 / 1. The record also includes population frequency data and structural context.
A55D (p.Ala55Asp) variant details
- p.Ala55Asp
- rs1010302141
- ClinGen CA282270843
- ClinVar RCV004189369
- TOPMed rs1010302141
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0012)
- Structural context available