p.Leu9 Leu10del variant of CYP21A2 (Steroid 21-hydroxylase)
p.Leu9 Leu10del in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu9 Leu10del variant details
- gnomAD 6-32038437-CCTGCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 16.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available