E3K (p.Glu3Lys) variant of CYP17A1 (P05093)
E3K (p.Glu3Lys) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- ExAC rs761929275
- gnomAD rs761929275
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.09
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available