D130H (p.Asp130His) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
D130H (p.Asp130His) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D130H (p.Asp130His) variant details
- p.Asp130His
- cosmic curated COSV10581
- TOPMed rs1374029916
- gnomAD rs1374029916
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.60
- MetaLR 0.50
- MetaSVM 0.01
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available