P53A (p.Pro53Ala) variant of IL12B (Interleukin-12 subunit beta)
P53A (p.Pro53Ala) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P53A (p.Pro53Ala) variant details
- p.Pro53Ala
- rs183111978
- ClinGen CA3538871
- ClinVar RCV004404933
- 1000Genomes rs183111978
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -0.97
- CADD 3.51
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)