R43W (p.Arg43Trp) variant of ARNT (P27540)
R43W (p.Arg43Trp) in ARNT (P27540) 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 0.40 / 1. The record also includes population frequency data.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- TOPMed rs1386729618
- gnomAD rs1386729618
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.26
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00052)