E44K (p.Glu44Lys) variant of HSD3B2 (P26439)
E44K (p.Glu44Lys) 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.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- gnomAD 1-119415549-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.31
- MetaLR 0.30
- MetaSVM -0.76
- CADD 18.40
- PolyPhen-2 0.05
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available