R38H (p.Arg38His) variant of RRAD (GTP-binding protein RAD)
R38H (p.Arg38His) 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 0.35 / 1. The record also includes population frequency data and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- TOPMed rs1485114848
- gnomAD rs1485114848
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 25.50
- PolyPhen-2 0.62
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available