E64G (p.Glu64Gly) variant of SHTN1 (Shootin-1)
E64G (p.Glu64Gly) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E64G (p.Glu64Gly) variant details
- p.Glu64Gly
- gnomAD rs1850136721
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.85
- MetaSVM 0.75
- CADD 32.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available