Q14L (p.Gln14Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
Q14L (p.Gln14Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q14L (p.Gln14Leu) variant details
- p.Gln14Leu
- gnomAD rs1257617460
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.27
- MetaLR 0.13
- MetaSVM -0.92
- CADD 24.10
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available