N103S (p.Asn103Ser) variant of ARNT (P27540)
N103S (p.Asn103Ser) 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 0.63 / 1. The record also includes population frequency data.
N103S (p.Asn103Ser) variant details
- p.Asn103Ser
- rs948601239
- Ensembl rs948601239
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.62
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-06)