I151L (p.Ile151Leu) variant of SHTN1 (Shootin-1)
I151L (p.Ile151Leu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I151L (p.Ile151Leu) variant details
- p.Ile151Leu
- ExAC rs780985147
- TOPMed rs780985147
- gnomAD rs780985147
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -1.01
- CADD 22.90
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available