L2V (p.Leu2Val) variant of CYP21A2 (Steroid 21-hydroxylase)
L2V (p.Leu2Val) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L2V (p.Leu2Val) variant details
- p.Leu2Val
- gnomAD 6-32038426-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 8.55
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available