R75* (p.Arg75Ter) variant of CYP4F2 (Cytochrome P450 4F2)
R75* (p.Arg75Ter) in CYP4F2 (Cytochrome P450 4F2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R75* (p.Arg75Ter) variant details
- p.Arg75Ter
- rs775460036
- gnomAD 19-15878913-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.81
- MetaLR 0.82
- MetaSVM 0.81
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available