C49F (p.Cys49Phe) variant of SLC22A6 (Q4U2R8)
C49F (p.Cys49Phe) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
C49F (p.Cys49Phe) variant details
- p.Cys49Phe
- TOPMed rs973557519
- gnomAD rs973557519
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.53
- MetaLR 0.44
- MetaSVM 0.04
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available