L9P (p.Leu9Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
L9P (p.Leu9Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- TOPMed rs1775982589
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available