A31D (p.Ala31Asp) variant of HMBS (Porphobilinogen deaminase)
A31D (p.Ala31Asp) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
A31D (p.Ala31Asp) variant details
- p.Ala31Asp
- gnomAD 11-119088639-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available