R32Y (p.Arg32Tyr) variant of HMBS (Porphobilinogen deaminase)
R32Y (p.Arg32Tyr) in HMBS (Porphobilinogen deaminase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R32Y (p.Arg32Tyr) variant details
- p.Arg32Tyr
- gnomAD 11-119088637-TGCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available