E132A (p.Glu132Ala) variant of IL12B (Interleukin-12 subunit beta)
E132A (p.Glu132Ala) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E132A (p.Glu132Ala) variant details
- p.Glu132Ala
- gnomAD 5-159322481-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -1.00
- CADD 24.80
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available