E116D (p.Glu116Asp) variant of SHTN1 (Shootin-1)
E116D (p.Glu116Asp) in SHTN1 (Shootin-1) 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 0.29 / 1. The record also includes structural context.
E116D (p.Glu116Asp) variant details
- p.Glu116Asp
- NCI-TCGA Cosmic COSV5338
- cosmic curated COSV53386
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.83
- MetaSVM 0.75
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available