H42Q (p.His42Gln) variant of AIP (AH receptor-interacting protein)
H42Q (p.His42Gln) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
H42Q (p.His42Gln) variant details
- p.His42Gln
- rs2134251024
- ClinGen CA381546456
- ClinVar RCV002012705
- Ensembl rs2134251024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.12
- MetaLR 0.25
- MetaSVM -0.86
- SIFT 0.16
- MutPred 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available