I100V (p.Ile100Val) variant of SHTN1 (Shootin-1)
I100V (p.Ile100Val) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
I100V (p.Ile100Val) variant details
- p.Ile100Val
- ESP rs143296440
- ExAC rs143296440
- TOPMed rs143296440
- gnomAD rs143296440
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.81
- MetaSVM 0.72
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available