V107A (p.Val107Ala) variant of IL12RB1 (P42701)
V107A (p.Val107Ala) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
V107A (p.Val107Ala) variant details
- p.Val107Ala
- rs150285174
- ClinGen CA9305253
- cosmic curated COSV59097
- ClinVar RCV000931149
- Conflicting interpretations
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 17.50
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)