R342W (p.Arg342Trp) variant of CYP21A2 (Steroid 21-hydroxylase)
R342W (p.Arg342Trp) 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 not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
R342W (p.Arg342Trp) variant details
- p.Arg342Trp
- gnomAD rs1458521635
- Pathogenic/Likely pathogenic
- not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperp)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Population evidence available
- Cited in: Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a… (PMID 29328376)