G14S (p.Gly14Ser) variant of SLC22A6 (Q4U2R8)
G14S (p.Gly14Ser) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- cosmic curated COSV64560
- ExAC rs72559735
- TOPMed rs72559735
- gnomAD rs72559735
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.74
- MetaLR 0.57
- MetaSVM 0.35
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available