E44K (p.Glu44Lys) variant of SLC30A8 (Q8IWU4)
E44K (p.Glu44Lys) in SLC30A8 (Q8IWU4) 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 0.32 / 1. The record also includes structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- rs267601738
- NCI-TCGA Cosmic COSV6997
- Ensembl rs267601738
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -1.02
- PolyPhen-2 0.01
- SIFT 0.12
- MutPred 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available