A6S (p.Ala6Ser) variant of ARNT (P27540)
A6S (p.Ala6Ser) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- TOPMed rs1668301257
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.16
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)