T88I (p.Thr88Ile) variant of SHTN1 (Shootin-1)
T88I (p.Thr88Ile) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T88I (p.Thr88Ile) variant details
- p.Thr88Ile
- TOPMed rs1405542055
- gnomAD rs1405542055
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.46
- ESM-1b 0.66
- AlphaMissense 0.83
- MetaLR 0.81
- MetaSVM 0.58
- CADD 28.60
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available