R26R (p.Arg26Arg) variant of HMBS (Porphobilinogen deaminase)
R26R (p.Arg26Arg) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R26R (p.Arg26Arg) variant details
- p.Arg26Arg
- gnomAD 11-119088299-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 8.34
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available