D30E (p.Asp30Glu) variant of AIP (AH receptor-interacting protein)
D30E (p.Asp30Glu) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- ESP rs374324200
- ExAC rs374324200
- TOPMed rs374324200
- gnomAD rs374324200
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.74
- MetaLR 0.44
- MetaSVM -0.49
- CADD 22.50
- PolyPhen-2 0.34
- SIFT 0.44
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available