D36D (p.Asp36Asp) variant of HMBS (Porphobilinogen deaminase)
D36D (p.Asp36Asp) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D36D (p.Asp36Asp) variant details
- p.Asp36Asp
- gnomAD 11-119088655-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 14.00
- Population evidence available
- Structural context available
- Literature evidence available