R32C (p.Arg32Cys) variant of HMBS (Porphobilinogen deaminase)
R32C (p.Arg32Cys) 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 0.71 / 1. The record also includes population frequency data and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- rs779792232
- ClinGen CA6313905
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53830
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.85
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in AIP)
- UniProt: Uncertain significance (in AIP)
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available