P26R (p.Pro26Arg) variant of AIP (AH receptor-interacting protein)
P26R (p.Pro26Arg) 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 0.74 / 1. The record also includes structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- rs2134247769
- ClinGen CA381545852
- ClinVar RCV001947212
- Ensembl rs2134247769
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 0.41
- MetaLR 0.81
- MetaSVM 0.75
- SIFT 0.00
- MutPred 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available