R358Q (p.Arg358Gln) variant of CYP17A1 (P05093)
R358Q (p.Arg358Gln) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-mon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R358Q (p.Arg358Gln) variant details
- p.Arg358Gln
- rs104894139
- ClinGen CA115185
- cosmic curated COSV10088
- ClinVar RCV000001861
- Pathogenic/Likely pathogenic
- not provided; Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-mon
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.39
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Congenital adrenal hyperplasia; Deficiency of ster)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. (PMID 11549685)
- Cited in: The genetic and functional basis of isolated 17,20-lyase deficiency. (PMID 9326943)