E105K (p.Glu105Lys) variant of UNC13D (Protein unc-13 homolog D)
E105K (p.Glu105Lys) in UNC13D (Protein unc-13 homolog D) 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 0.13 / 1. The record also includes population frequency data and structural context.
E105K (p.Glu105Lys) variant details
- p.Glu105Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.03
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available