R92G (p.Arg92Gly) variant of CYP21A2 (Steroid 21-hydroxylase)
R92G (p.Arg92Gly) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Congenital adrenal hype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
R92G (p.Arg92Gly) variant details
- p.Arg92Gly
- rs1554304513
- ClinGen CA363500061
- ClinVar RCV000517012
- ClinVar RCV005901163
- Pathogenic/Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Congenital adrenal hype
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Congeni)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)
- Cited in: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice… (PMID 30272171)