E44Q (p.Glu44Gln) variant of HSD3B2 (P26439)
E44Q (p.Glu44Gln) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- gnomAD 1-119415549-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.32
- MetaLR 0.45
- MetaSVM -0.54
- CADD 15.60
- PolyPhen-2 0.10
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available