L17P (p.Leu17Pro) variant of IL12RB1 (P42701)
L17P (p.Leu17Pro) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- ExAC rs770755723
- gnomAD rs770755723
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 10.20
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)