R6H (p.Arg6His) variant of RIT1 (GTP-binding protein Rit1)
R6H (p.Arg6His) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- TOPMed rs1255067143
- gnomAD rs1255067143
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.21
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available