S57C (p.Ser57Cys) variant of ARNT (P27540)
S57C (p.Ser57Cys) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
S57C (p.Ser57Cys) variant details
- p.Ser57Cys
- cosmic curated COSV62230
- Ensembl rs1663866797
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the East Asian population (allele frequency 7.6e-05)