R17C (p.Arg17Cys) variant of CYP21A2 (Steroid 21-hydroxylase)
R17C (p.Arg17Cys) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not specified; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- 1000Genomes rs530337355
- ExAC rs530337355
- gnomAD rs530337355
- Uncertain significance
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not specified; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 14.60
- PolyPhen-2 0.27
- SIFT 0.05
- ClinVar: Uncertain significance (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not spe)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects. (PMID 27721825)