A91S (p.Ala91Ser) variant of IL12RB1 (P42701)
A91S (p.Ala91Ser) in IL12RB1 (P42701) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
A91S (p.Ala91Ser) variant details
- p.Ala91Ser
- 1000Genomes rs147215816
- ExAC rs147215816
- TOPMed rs147215816
- gnomAD rs147215816
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0532
- CADD 0.40
- PolyPhen-2 0.01
- SIFT 0.09
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)