R239Q (p.Arg239Gln) variant of CYP17A1 (P05093)
R239Q (p.Arg239Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R239Q (p.Arg239Gln) variant details
- p.Arg239Gln
- rs773278607
- ClinGen CA5669490
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10088
- Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.54
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available