L52V (p.Leu52Val) variant of CYP21A2 (Steroid 21-hydroxylase)
L52V (p.Leu52Val) 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 0.40 / 1. The record also includes population frequency data and structural context.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- Ensembl rs2151870445
- Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 20.90
- ClinVar: Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- UniProt: Likely pathogenic
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available