E30del (p.Glu30del) variant of HSD3B2 (P26439)
E30del (p.Glu30del) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E30del (p.Glu30del) variant details
- rs1441281761
- gnomAD 1-119415504-AAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 16.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available