E76D (p.Glu76Asp) variant of SLC22A6 (Q4U2R8)
E76D (p.Glu76Asp) 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 0.19 / 1. The record also includes population frequency data and structural context.
E76D (p.Glu76Asp) variant details
- p.Glu76Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.02
- MetaLR 0.09
- MetaSVM -0.98
- CADD 0.23
- PolyPhen-2 0.01
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available