L434P (p.Leu434Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
L434P (p.Leu434Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes population frequency data.
L434P (p.Leu434Pro) variant details
- p.Leu434Pro
- gnomAD rs1228433585
- Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)