R133H (p.Arg133His) variant of ARNT (P27540)
R133H (p.Arg133His) 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 0.85 / 1. The record also includes population frequency data.
R133H (p.Arg133His) variant details
- p.Arg133His
- rs752945065
- NCI-TCGA Cosmic COSV6223
- cosmic curated COSV62230
- ExAC rs752945065
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.88
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)