L30F (p.Leu30Phe) variant of HMBS (Porphobilinogen deaminase)
L30F (p.Leu30Phe) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AIP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- UniProt VAR 087876
- Pathogenic
- in AIP
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Population evidence available
- Structural context available
- Cited in: From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria. (PMID 29360981)
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)