R22R (p.Arg22Arg) variant of HMBS (Porphobilinogen deaminase)
R22R (p.Arg22Arg) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R22R (p.Arg22Arg) variant details
- p.Arg22Arg
- rs531691068
- gnomAD 11-119088287-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.83
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available