I21I (p.Ile21Ile) variant of HMBS (Porphobilinogen deaminase)
I21I (p.Ile21Ile) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I21I (p.Ile21Ile) variant details
- p.Ile21Ile
- rs771816709
- gnomAD 11-119088284-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 14.20
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Literature evidence available