F17C (p.Phe17Cys) variant of SLC22A2 (O15244)
F17C (p.Phe17Cys) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F17C (p.Phe17Cys) variant details
- p.Phe17Cys
- TOPMed rs1318646520
- gnomAD rs1318646520
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.25
- CADD 21.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available