S15S (p.Ser15Ser) variant of HMBS (Porphobilinogen deaminase)
S15S (p.Ser15Ser) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S15S (p.Ser15Ser) variant details
- p.Ser15Ser
- gnomAD 11-119088266-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 13.30
- Population evidence available
- Structural context available
- Literature evidence available