R370W (p.Arg370Trp) variant of CYP21A2 (Steroid 21-hydroxylase)
R370W (p.Arg370Trp) 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; Congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R370W (p.Arg370Trp) variant details
- p.Arg370Trp
- gnomAD rs1195963761
- Pathogenic/Likely pathogenic
- not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperp)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the Latino/Admixed American population (allele frequency 0.00085)
- Structural context available
- Cited in: Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase… (PMID 20080860)