L38C (p.Leu38Cys) variant of CYP21A2 (Steroid 21-hydroxylase)
L38C (p.Leu38Cys) in CYP21A2 (Steroid 21-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L38C (p.Leu38Cys) variant details
- p.Leu38Cys
- rs1427913145
- gnomAD 6-32038532-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available