A35D (p.Ala35Asp) variant of ARNT (P27540)
A35D (p.Ala35Asp) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
A35D (p.Ala35Asp) variant details
- p.Ala35Asp
- ExAC rs780629150
- TOPMed rs780629150
- gnomAD rs780629150
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.13
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 9.7e-05)