F15L (p.Phe15Leu) variant of IL12RB1 (P42701)
F15L (p.Phe15Leu) 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 0.09 / 1. The record also includes population frequency data.
F15L (p.Phe15Leu) variant details
- p.Phe15Leu
- gnomAD rs1429095330
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0892
- CADD 1.46
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)