G16V (p.Gly16Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
G16V (p.Gly16Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- rs1370167546
- ClinGen CA368183158
- ClinVar RCV004370606
- TOPMed rs1370167546
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.19
- MetaLR 0.11
- MetaSVM -0.93
- CADD 22.80
- PolyPhen-2 0.24
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available