A11A (p.Ala11Ala) variant of HMBS (Porphobilinogen deaminase)
A11A (p.Ala11Ala) in HMBS (Porphobilinogen deaminase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A11A (p.Ala11Ala) variant details
- p.Ala11Ala
- gnomAD 11-119085066-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available