I112M (p.Ile112Met) variant of CYP17A1 (P05093)
I112M (p.Ile112Met) in CYP17A1 (P05093) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in AH5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I112M (p.Ile112Met) variant details
- p.Ile112Met
- 1000Genomes rs548446966
- ExAC rs548446966
- TOPMed rs548446966
- gnomAD rs548446966
- Likely benign
- in AH5
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.39
- CADD 5.40
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Likely benign (in AH5)
- UniProt: Likely benign (in AH5)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available