L64F (p.Leu64Phe) variant of HMBS (Porphobilinogen deaminase)
L64F (p.Leu64Phe) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar 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 0.82 / 1. The record also includes structural context.
L64F (p.Leu64Phe) variant details
- p.Leu64Phe
- NCI-TCGA Cosmic COSV5382
- cosmic curated COSV53828
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.92
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available