L9A (p.Leu9Ala) variant of CYP21A2 (Steroid 21-hydroxylase)
L9A (p.Leu9Ala) in CYP21A2 (Steroid 21-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L9A (p.Leu9Ala) variant details
- p.Leu9Ala
- rs1775982153
- gnomAD 6-32038445-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 26.50
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Literature evidence available