A91T (p.Ala91Thr) variant of IL12RB1 (P42701)
A91T (p.Ala91Thr) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Mendelian susceptibility to mycobacterial diseases due to complete. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
A91T (p.Ala91Thr) variant details
- p.Ala91Thr
- rs147215816
- ClinGen CA9305267
- cosmic curated COSV10737
- ClinVar RCV000652151
- Benign
- not provided; Mendelian susceptibility to mycobacterial diseases due to complete
- Missense
- Variant Prioritization Score for Impact Estimate 0.0598
- CADD 0.79
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Benign (not provided; Mendelian susceptibility to mycobacterial diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)