R133C (p.Arg133Cys) variant of ARNT (P27540)
R133C (p.Arg133Cys) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data.
R133C (p.Arg133Cys) variant details
- p.Arg133Cys
- TOPMed rs770206803
- gnomAD rs770206803
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:PATHAN population (allele frequency 0.021)