T113I (p.Thr113Ile) variant of VPS35 (Q96QK1)
T113I (p.Thr113Ile) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T113I (p.Thr113Ile) variant details
- p.Thr113Ile
- gnomAD rs1352539649
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.68
- CADD 28.60
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available