D70N (p.Asp70Asn) variant of ARNT (P27540)
D70N (p.Asp70Asn) 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 0.43 / 1. The record also includes population frequency data.
D70N (p.Asp70Asn) variant details
- p.Asp70Asn
- rs1312509595
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10059
- TOPMed rs1312509595
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.17
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00013)