H56Q (p.His56Gln) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
H56Q (p.His56Gln) 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 0.20 / 1. The record also includes population frequency data and structural context.
H56Q (p.His56Gln) variant details
- p.His56Gln
- rs1283391141
- ClinGen CA368182433
- ClinVar RCV004095740
- gnomAD rs1283391141
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -1.06
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available