D152N (p.Asp152Asn) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
D152N (p.Asp152Asn) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
D152N (p.Asp152Asn) variant details
- p.Asp152Asn
- cosmic curated COSV50151
- ExAC rs755026542
- TOPMed rs755026542
- gnomAD rs755026542
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.68
- MetaLR 0.62
- MetaSVM 0.49
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available