R49Q (p.Arg49Gln) variant of CYP4F2 (Cytochrome P450 4F2)
R49Q (p.Arg49Gln) in CYP4F2 (Cytochrome P450 4F2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- 1000Genomes rs201380574
- ESP rs201380574
- ExAC rs201380574
- TOPMed rs201380574
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.19
- CADD 0.04
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the HGDP:MIAO population (allele frequency 0.05)
- Structural context available