K26E (p.Lys26Glu) variant of HSD3B2 (P26439)
K26E (p.Lys26Glu) in HSD3B2 (P26439) is a missense 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.
K26E (p.Lys26Glu) variant details
- p.Lys26Glu
- gnomAD 1-119415495-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -1.03
- CADD 9.88
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available