S28S (p.Ser28Ser) variant of HMBS (Porphobilinogen deaminase)
S28S (p.Ser28Ser) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs762409662
- gnomAD 11-119088305-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 13.90
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available