S17P (p.Ser17Pro) variant of CYP11B1 (P15538)
S17P (p.Ser17Pro) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- ExAC rs751833268
- TOPMed rs751833268
- gnomAD rs751833268
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.44
- CADD 14.80
- PolyPhen-2 0.55
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available