T10P (p.Thr10Pro) variant of HMBS (Porphobilinogen deaminase)
T10P (p.Thr10Pro) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
T10P (p.Thr10Pro) variant details
- p.Thr10Pro
- TOPMed rs914471864
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.06
- Structural context available