p.Gly5 Leu6delinsVal variant of CYP21A2 (Steroid 21-hydroxylase)
p.Gly5 Leu6delinsVal in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly5 Leu6delinsVal variant details
- rs1267756088
- gnomAD 6-32038435-GGCC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available