I23I (p.Ile23Ile) variant of HADHB (P55084)
I23I (p.Ile23Ile) in HADHB (P55084) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I23I (p.Ile23Ile) variant details
- p.Ile23Ile
- gnomAD 2-26254434-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 6.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available