A9A (p.Ala9Ala) variant of HMBS (Porphobilinogen deaminase)
A9A (p.Ala9Ala) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A9A (p.Ala9Ala) variant details
- p.Ala9Ala
- rs782487780
- gnomAD 11-119085060-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available