L81F (p.Leu81Phe) variant of HMBS (Porphobilinogen deaminase)
L81F (p.Leu81Phe) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
L81F (p.Leu81Phe) variant details
- p.Leu81Phe
- rs1178276694
- ClinGen CA382889957
- cosmic curated COSV10512
- ClinVar RCV003833758
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in ENCEP)
- UniProt: Uncertain significance (in ENCEP)
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available