I332T (p.Ile332Thr) variant of CYP17A1 (P05093)
I332T (p.Ile332Thr) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-monooxygenase; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
I332T (p.Ile332Thr) variant details
- p.Ile332Thr
- rs772804570
- ClinGen CA5669417
- ClinVar RCV003468633
- ClinVar RCV005100265
- Pathogenic/Likely pathogenic
- Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-monooxygenase; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.76
- CADD 25.60
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-m)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available