D101H (p.Asp101His) variant of IL12RB1 (P42701)
D101H (p.Asp101His) in IL12RB1 (P42701) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
D101H (p.Asp101His) variant details
- p.Asp101His
- ExAC rs748586854
- TOPMed rs748586854
- gnomAD rs748586854
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 23.90
- PolyPhen-2 0.89
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)