L309F (p.Leu309Phe) variant of CYP21A2 (Steroid 21-hydroxylase)
L309F (p.Leu309Phe) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar 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 0.67 / 1. The record also includes population frequency data and structural context.
L309F (p.Leu309Phe) variant details
- p.Leu309Phe
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10092
- gnomAD rs1243483532
- Likely pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available