I75M (p.Ile75Met) variant of CYP17A1 (P05093)
I75M (p.Ile75Met) 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 0.12 / 1. The record also includes population frequency data and structural context.
I75M (p.Ile75Met) variant details
- p.Ile75Met
- rs931528592
- ClinGen CA212295998
- ClinVar RCV001280135
- gnomAD rs931528592
- Uncertain significance
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.16
- CADD 0.73
- PolyPhen-2 0.14
- SIFT 0.16
- ClinVar: Uncertain significance (Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available