R355P (p.Arg355Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
R355P (p.Arg355Pro) 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 0.84 / 1. The record also includes published literature and structural context.
R355P (p.Arg355Pro) variant details
- p.Arg355Pro
- rs760216630
- ClinGen CA363511096
- ClinVar RCV002049751
- 1000Genomes rs760216630
- Uncertain significance
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.68
- MetaLR 0.88
- MetaSVM 0.83
- PolyPhen-2 0.86
- SIFT 0.04
- MutPred 0.99
- ClinVar: Uncertain significance (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Likely pathogenic (in AH3)
- UniProt: Likely pathogenic (in AH3)
- 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)