I18I (p.Ile18Ile) variant of HSD3B2 (P26439)
I18I (p.Ile18Ile) in HSD3B2 (P26439) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I18I (p.Ile18Ile) variant details
- p.Ile18Ile
- rs777605448
- gnomAD 1-119415473-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 6.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available