L34P (p.Leu34Pro) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L34P (p.Leu34Pro) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- rs2502188602
- ClinGen CA389455312
- ClinVar RCV003330336
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.81
- MetaLR 0.79
- MetaSVM 0.73
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency. (PMID 32750042)