E44G (p.Glu44Gly) variant of HSD3B2 (P26439)
E44G (p.Glu44Gly) in HSD3B2 (P26439) is a protein-truncating 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.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- rs760846678
- gnomAD 1-119415544-TGA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available