D121G (p.Asp121Gly) variant of SHTN1 (Shootin-1)
D121G (p.Asp121Gly) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
D121G (p.Asp121Gly) variant details
- p.Asp121Gly
- TOPMed rs1208348591
- gnomAD rs1208348591
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.68
- MetaSVM 0.25
- SIFT 0.19
- Structural context available