E432K (p.Glu432Lys) variant of CYP21A2 (Steroid 21-hydroxylase)
E432K (p.Glu432Lys) 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 0.67 / 1. The record also includes population frequency data.
E432K (p.Glu432Lys) variant details
- p.Glu432Lys
- gnomAD rs1342388870
- Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:BEB population (allele frequency 0.0051)