R26Q (p.Arg26Gln) variant of CYP21A2 (Steroid 21-hydroxylase)
R26Q (p.Arg26Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- rs771942449
- ExAC rs771942449
- TOPMed rs771942449
- gnomAD rs771942449
- Uncertain significance
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 16.60
- PolyPhen-2 0.36
- SIFT 0.19
- ClinVar: Uncertain significance (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context 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)