L9P (p.Leu9Pro) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L9P (p.Leu9Pro) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- ExAC rs765891268
- gnomAD rs765891268
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -0.98
- CADD 21.40
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available