Y38H (p.Tyr38His) variant of IL12B (Interleukin-12 subunit beta)
Y38H (p.Tyr38His) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
Y38H (p.Tyr38His) variant details
- p.Tyr38His
- rs1232713153
- NCI-TCGA Cosmic COSV5145
- TOPMed rs1232713153
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0912
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.95
- CADD 0.29
- PolyPhen-2 0.00
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available