A31A (p.Ala31Ala) variant of HMBS (Porphobilinogen deaminase)
A31A (p.Ala31Ala) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A31A (p.Ala31Ala) variant details
- p.Ala31Ala
- gnomAD 11-119088640-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.41
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Literature evidence available