D135G (p.Asp135Gly) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
D135G (p.Asp135Gly) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D135G (p.Asp135Gly) variant details
- p.Asp135Gly
- TOPMed rs1441644451
- gnomAD rs1441644451
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.44
- MetaLR 0.36
- MetaSVM -0.33
- CADD 25.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available