K54E (p.Lys54Glu) variant of HSD3B2 (P26439)
K54E (p.Lys54Glu) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K54E (p.Lys54Glu) variant details
- p.Lys54Glu
- ESP rs372260820
- ExAC rs372260820
- TOPMed rs372260820
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.42
- MetaLR 0.63
- MetaSVM 0.28
- CADD 22.80
- PolyPhen-2 0.74
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available