H36Q (p.His36Gln) variant of RRAD (GTP-binding protein RAD)
H36Q (p.His36Gln) 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 0.23 / 1. The record also includes population frequency data and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- TOPMed rs909531301
- gnomAD rs909531301
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available