W48G (p.Trp48Gly) variant of CYP1A2 (Cytochrome P450 1A2)
W48G (p.Trp48Gly) in CYP1A2 (Cytochrome P450 1A2) 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 0.46 / 1. The record also includes population frequency data and structural context.
W48G (p.Trp48Gly) variant details
- p.Trp48Gly
- rs201763966
- ClinGen CA7659695
- ClinVar RCV004194780
- 1000Genomes rs201763966
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.40
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available