R102Q (p.Arg102Gln) variant of ARNT (P27540)
R102Q (p.Arg102Gln) 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 0.88 / 1. The record also includes population frequency data.
R102Q (p.Arg102Gln) variant details
- p.Arg102Gln
- rs1490240303
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV6222
- cosmic curated COSV62229
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)