A44A (p.Ala44Ala) variant of HMBS (Porphobilinogen deaminase)
A44A (p.Ala44Ala) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- rs563428135
- gnomAD 11-119088679-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 8.20
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Literature evidence available