A90S (p.Ala90Ser) variant of ARNT (P27540)
A90S (p.Ala90Ser) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A90S (p.Ala90Ser) variant details
- p.Ala90Ser
- Ensembl rs867973621
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.22
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.24
- Population evidence available
- Structural context available