R19R (p.Arg19Arg) variant of HMBS (Porphobilinogen deaminase)
R19R (p.Arg19Arg) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R19R (p.Arg19Arg) variant details
- p.Arg19Arg
- rs1359618302
- gnomAD 11-119088278-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 16.30
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Literature evidence available