E64Q (p.Glu64Gln) variant of SHTN1 (Shootin-1)
E64Q (p.Glu64Gln) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
E64Q (p.Glu64Gln) variant details
- p.Glu64Gln
- gnomAD rs1850136862
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.74
- MetaSVM 0.35
- SIFT 0.22
- Structural context available