G100E (p.Gly100Glu) variant of SLC22A6 (Q4U2R8)
G100E (p.Gly100Glu) in SLC22A6 (Q4U2R8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G100E (p.Gly100Glu) variant details
- p.Gly100Glu
- rs745391498
- cosmic curated COSV10652
- ExAC rs745391498
- TOPMed rs745391498
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -0.98
- CADD 9.26
- PolyPhen-2 0.01
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available