P45S (p.Pro45Ser) variant of ARNT (P27540)
P45S (p.Pro45Ser) in ARNT (P27540) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- NCI-TCGA TCGA novel
- TOPMed rs1664993700
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.06
- CADD 8.98
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)