L4del (p.Leu4del) variant of CYP21A2 (Steroid 21-hydroxylase)
L4del (p.Leu4del) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L4del (p.Leu4del) variant details
- gnomAD 6-32038428-GCTC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 7.56
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available