S69P (p.Ser69Pro) variant of HMBS (Porphobilinogen deaminase)
S69P (p.Ser69Pro) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
S69P (p.Ser69Pro) variant details
- p.Ser69Pro
- TOPMed rs1249080912
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- ESM-1b 0.27
- AlphaMissense 0.49
- Structural context available