G138S (p.Gly138Ser) variant of CYP17A1 (P05093)
G138S (p.Gly138Ser) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G138S (p.Gly138Ser) variant details
- p.Gly138Ser
- rs1485258085
- ClinGen CA377940301
- ClinVar RCV001106935
- TOPMed rs1485258085
- Uncertain significance
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.61
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available