p.Leu8 Leu13del variant of CYP21A2 (Steroid 21-hydroxylase)
p.Leu8 Leu13del in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu8 Leu13del variant details
- rs1424110213
- gnomAD 6-32038436-GCCTGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 18.30
- Most common in the 1KG:CDX population (allele frequency 0.012)
- Structural context available
- Literature evidence available