R102W (p.Arg102Trp) variant of ARNT (P27540)
R102W (p.Arg102Trp) 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 0.83 / 1. The record also includes population frequency data.
R102W (p.Arg102Trp) variant details
- p.Arg102Trp
- NCI-TCGA Cosmic COSV6222
- cosmic curated COSV62229
- gnomAD rs1660915119
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.94
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)