I21F (p.Ile21Phe) variant of HMBS (Porphobilinogen deaminase)
I21F (p.Ile21Phe) 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 0.60 / 1. The record also includes population frequency data and structural context.
I21F (p.Ile21Phe) variant details
- p.Ile21Phe
- rs1946135275
- ClinGen CA382888108
- ClinVar RCV001218766
- Ensembl rs1946135275
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.86
- ESM-1b 0.10
- AlphaMissense 0.27
- CADD 24.60
- PolyPhen-2 0.79
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available