S45S (p.Ser45Ser) variant of HMBS (Porphobilinogen deaminase)
S45S (p.Ser45Ser) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S45S (p.Ser45Ser) variant details
- p.Ser45Ser
- gnomAD 11-119088682-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.32
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Literature evidence available