A35T (p.Ala35Thr) variant of ARNT (P27540)
A35T (p.Ala35Thr) 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 0.12 / 1. The record also includes population frequency data.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs201499435
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10059
- ExAC rs201499435
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.02
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)