V19A (p.Val19Ala) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
V19A (p.Val19Ala) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- rs2229188
- UniProt VAR 023470
- ExAC rs2229188
- gnomAD rs2229188
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.97
- CADD 24.40
- PolyPhen-2 0.07
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available