I53I (p.Ile53Ile) variant of HMBS (Porphobilinogen deaminase)
I53I (p.Ile53Ile) in HMBS (Porphobilinogen deaminase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I53I (p.Ile53Ile) variant details
- p.Ile53Ile
- gnomAD 11-119088706-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 16.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available