H37Y (p.His37Tyr) variant of AIP (AH receptor-interacting protein)
H37Y (p.His37Tyr) 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 0.88 / 1. The record also includes population frequency data and structural context.
H37Y (p.His37Tyr) variant details
- p.His37Tyr
- rs2495395613
- ClinGen CA381546306
- ClinVar RCV003035872
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.94
- MetaLR 0.88
- MetaSVM 1.02
- CADD 25.30
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available