R73Q (p.Arg73Gln) variant of ARNT (P27540)
R73Q (p.Arg73Gln) in ARNT (P27540) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- rs146813760
- NCI-TCGA Cosmic COSV6223
- cosmic curated COSV62231
- 1000Genomes rs146813760
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.20
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available