A35V (p.Ala35Val) variant of ARNT (P27540)
A35V (p.Ala35Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- ExAC rs780629150
- TOPMed rs780629150
- gnomAD rs780629150
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.04
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)