H33Q (p.His33Gln) variant of CYP4F2 (Cytochrome P450 4F2)
H33Q (p.His33Gln) 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 0.14 / 1. The record also includes population frequency data and structural context.
H33Q (p.His33Gln) variant details
- p.His33Gln
- 1000Genomes rs139237854
- ESP rs139237854
- ExAC rs139237854
- TOPMed rs139237854
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.20
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available