Q50Q (p.Gln50Gln) variant of HMBS (Porphobilinogen deaminase)
Q50Q (p.Gln50Gln) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q50Q (p.Gln50Gln) variant details
- p.Gln50Gln
- rs1032690874
- gnomAD 11-119088697-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 10.20
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Literature evidence available