I3I (p.Ile3Ile) variant of HADHB (P55084)
I3I (p.Ile3Ile) in HADHB (P55084) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I3I (p.Ile3Ile) variant details
- p.Ile3Ile
- rs1671523247
- gnomAD 2-26254263-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 7.61
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available