G425V (p.Gly425Val) variant of CYP21A2 (Steroid 21-hydroxylase)
G425V (p.Gly425Val) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G425V (p.Gly425Val) variant details
- p.Gly425Val
- rs2151876633
- Ensembl rs2151876633
- ClinGen CA363511936
- ClinVar RCV001667853
- Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Likely pathogenic (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)