T11I (p.Thr11Ile) variant of CYP17A1 (P05093)
T11I (p.Thr11Ile) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Deficiency of steroid 17-alpha-monooxygenase; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- rs72559703
- ClinGen CA5669661
- ClinVar RCV000885354
- ClinVar RCV001825787
- Likely benign
- Deficiency of steroid 17-alpha-monooxygenase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0691
- REVEL 0.07
- CADD 0.61
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Likely benign (Deficiency of steroid 17-alpha-monooxygenase; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:KHV population (allele frequency 0.015)
- Structural context available