Q66H (p.Gln66His) variant of RRAD (GTP-binding protein RAD)
Q66H (p.Gln66His) in RRAD (GTP-binding protein RAD) is a missense change. Clinical records from ClinVar 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 0.17 / 1. The record also includes population frequency data and structural context.
Q66H (p.Gln66His) variant details
- p.Gln66His
- Ensembl rs1962974894
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.00
- PolyPhen-2 0.14
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance (in dbSNP:rs7198458)
- Population evidence available
- Structural context available