T35A (p.Thr35Ala) variant of HMBS (Porphobilinogen deaminase)
T35A (p.Thr35Ala) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- TOPMed rs1946151088
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.34
- Structural context available