L25I (p.Leu25Ile) variant of CYP21A2 (Steroid 21-hydroxylase)
L25I (p.Leu25Ile) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L25I (p.Leu25Ile) variant details
- p.Leu25Ile
- gnomAD 6-32038495-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 5.90
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available