P53L (p.Pro53Leu) variant of IL12B (Interleukin-12 subunit beta)
P53L (p.Pro53Leu) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- NCI-TCGA Cosmic COSV5145
- gnomAD rs1754131707
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -0.95
- CADD 14.40
- SIFT 0.06
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available