D49N (p.Asp49Asn) variant of IL12RB1 (P42701)
D49N (p.Asp49Asn) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- ExAC rs767782063
- TOPMed rs767782063
- gnomAD rs767782063
- Missense
- Variant Prioritization Score for Impact Estimate 0.067
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.64
- Most common in the East Asian population (allele frequency 0.00015)