I63M (p.Ile63Met) variant of SHTN1 (Shootin-1)
I63M (p.Ile63Met) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
I63M (p.Ile63Met) variant details
- p.Ile63Met
- gnomAD rs1850137027
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.80
- MetaSVM 0.54
- CADD 24.80
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available