R32L (p.Arg32Leu) variant of HMBS (Porphobilinogen deaminase)
R32L (p.Arg32Leu) 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 0.55 / 1. The record also includes structural context.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- rs746673847
- ClinGen CA382888271
- ClinVar RCV003574590
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in AIP)
- UniProt: Uncertain significance (in AIP)
- Structural context available