D105Y (p.Asp105Tyr) variant of CYP4F2 (Cytochrome P450 4F2)
D105Y (p.Asp105Tyr) in CYP4F2 (Cytochrome P450 4F2) 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 0.60 / 1. The record also includes population frequency data and structural context.
D105Y (p.Asp105Tyr) variant details
- p.Asp105Tyr
- rs372270252
- ClinGen CA9274092
- ClinVar RCV004212206
- ESP rs372270252
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.70
- CADD 17.50
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available