D121E (p.Asp121Glu) variant of SHTN1 (Shootin-1)
D121E (p.Asp121Glu) in SHTN1 (Shootin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
D121E (p.Asp121Glu) variant details
- p.Asp121Glu
- ExAC rs752735637
- TOPMed rs752735637
- gnomAD rs752735637
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.36
- MetaSVM -0.74
- CADD 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available