P433L (p.Pro433Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
P433L (p.Pro433Leu) 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 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.
P433L (p.Pro433Leu) variant details
- p.Pro433Leu
- gnomAD rs1219237916
- Likely pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.37
- MetaLR 0.27
- MetaSVM -0.55
- CADD 21.00
- PolyPhen-2 0.88
- SIFT 0.02
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5.8e-05)