R32R (p.Arg32Arg) variant of HMBS (Porphobilinogen deaminase)
R32R (p.Arg32Arg) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R32R (p.Arg32Arg) variant details
- p.Arg32Arg
- gnomAD 11-119088643-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 11.20
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Literature evidence available