G24G (p.Gly24Gly) variant of HMBS (Porphobilinogen deaminase)
G24G (p.Gly24Gly) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G24G (p.Gly24Gly) variant details
- p.Gly24Gly
- rs1229936086
- gnomAD 11-119088293-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.35
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available