R17L (p.Arg17Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
R17L (p.Arg17Leu) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- rs1185695713
- gnomAD rs1185695713
- ClinGen CA363498707
- ClinVar RCV000984550
- Uncertain significance
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 9.44
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)