G5G (p.Gly5Gly) variant of HMBS (Porphobilinogen deaminase)
G5G (p.Gly5Gly) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G5G (p.Gly5Gly) variant details
- p.Gly5Gly
- gnomAD 11-119085048-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 14.10
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Literature evidence available