R19S (p.Arg19Ser) variant of HMBS (Porphobilinogen deaminase)
R19S (p.Arg19Ser) in HMBS (Porphobilinogen deaminase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- rs1034391830
- gnomAD 11-119088274-TGA-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 28.50
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available
- Literature evidence available