L30S (p.Leu30Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
L30S (p.Leu30Ser) in CYP21A2 (Steroid 21-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L30S (p.Leu30Ser) variant details
- p.Leu30Ser
- gnomAD 6-32038508-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available