R32H (p.Arg32His) variant of HMBS (Porphobilinogen deaminase)
R32H (p.Arg32His) 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 0.78 / 1. The record also includes population frequency data and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- rs746673847
- ClinGen CA6313906
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53830
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.99
- MetaSVM 1.01
- CADD 29.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in AIP)
- UniProt: Uncertain significance (in AIP)
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available