I296T (p.Ile296Thr) variant of CYP17A1 (P05093)
I296T (p.Ile296Thr) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of steroid 17-alpha-monooxygenase; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I296T (p.Ile296Thr) variant details
- p.Ile296Thr
- rs531000872
- ClinGen CA5669453
- ClinVar RCV003468638
- ClinVar RCV003738477
- Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.23
- SIFT 0.01
- ClinVar: Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available