L50R (p.Leu50Arg) variant of IL12RB1 (P42701)
L50R (p.Leu50Arg) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
L50R (p.Leu50Arg) variant details
- p.Leu50Arg
- cosmic curated COSV10881
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 23.30
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)