D105N (p.Asp105Asn) variant of CYP4F2 (Cytochrome P450 4F2)
D105N (p.Asp105Asn) in CYP4F2 (Cytochrome P450 4F2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D105N (p.Asp105Asn) variant details
- p.Asp105Asn
- ESP rs372270252
- ExAC rs372270252
- TOPMed rs372270252
- gnomAD rs372270252
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.34
- CADD 7.14
- PolyPhen-2 0.05
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available