A9T (p.Ala9Thr) variant of HMBS (Porphobilinogen deaminase)
A9T (p.Ala9Thr) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs2497397150
- ClinGen CA382985795
- ClinVar RCV003057512
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available