R96Q (p.Arg96Gln) variant of CYP17A1 (P05093)
R96Q (p.Arg96Gln) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-monooxygenase; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R96Q (p.Arg96Gln) variant details
- p.Arg96Gln
- rs104894153
- ClinGen CA115200
- ClinVar RCV000001875
- ClinVar RCV001067683
- Pathogenic
- Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-monooxygenase; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.77
- AlphaMissense 0.91
- MetaLR 0.79
- MetaSVM 0.76
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-m)
- 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: A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency. (PMID 16569739)
- Cited in: Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and… (PMID 24498484)