D78E (p.Asp78Glu) variant of ARNT (P27540)
D78E (p.Asp78Glu) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D78E (p.Asp78Glu) variant details
- p.Asp78Glu
- gnomAD rs1428483610
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 0.60
- SIFT 0.31
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available