T14I (p.Thr14Ile) variant of SHTN1 (Shootin-1)
T14I (p.Thr14Ile) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- ExAC rs747181032
- TOPMed rs747181032
- gnomAD rs747181032
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 23.50
- PolyPhen-2 0.27
- SIFT 0.04
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available