L12P (p.Leu12Pro) variant of IL23A (Interleukin-23 subunit alpha)
L12P (p.Leu12Pro) in IL23A (Interleukin-23 subunit alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- ExAC rs762696858
- TOPMed rs762696858
- gnomAD rs762696858
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.36
- MetaLR 0.40
- MetaSVM -0.21
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available