R440C (p.Arg440Cys) variant of CYP17A1 (P05093)
R440C (p.Arg440Cys) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.89 / 1. The record also includes population frequency data and structural context.
R440C (p.Arg440Cys) variant details
- p.Arg440Cys
- rs868228603
- ClinGen CA377938232
- ClinVar RCV003468654
- ClinVar RCV003575109
- Pathogenic/Likely pathogenic
- Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-monooxygenase; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital adrenal hyperplasia; Deficiency of steroid 17-alpha-m)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available