H83R (p.His83Arg) variant of HMBS (Porphobilinogen deaminase)
H83R (p.His83Arg) 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 0.47 / 1. The record also includes structural context.
H83R (p.His83Arg) variant details
- p.His83Arg
- rs1174451383
- ClinGen CA382890011
- ClinVar RCV002640148
- gnomAD rs1174451383
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.89
- MetaSVM 0.59
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available