G48G (p.Gly48Gly) variant of HMBS (Porphobilinogen deaminase)
G48G (p.Gly48Gly) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G48G (p.Gly48Gly) variant details
- p.Gly48Gly
- rs767681753
- gnomAD 11-119088691-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 11.50
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available