R125Q (p.Arg125Gln) variant of CYP17A1 (P05093)
R125Q (p.Arg125Gln) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Differences in sex development; Deficiency of steroid 17-alpha-monooxygenase; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R125Q (p.Arg125Gln) variant details
- p.Arg125Gln
- rs104894154
- ClinGen CA115201
- NCI-TCGA Cosmic COSV6400
- cosmic curated COSV64005
- Pathogenic
- Differences in sex development; Deficiency of steroid 17-alpha-monooxygenase; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.92
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Differences in sex development; Deficiency of steroid 17-alpha-m)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency. (PMID 16849412)