L28P (p.Leu28Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
L28P (p.Leu28Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 6-32038505-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 17.50
- PolyPhen-2 0.20
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available