T3I (p.Thr3Ile) variant of SORL1 (Sortilin-related receptor)
T3I (p.Thr3Ile) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- gnomAD 11-121452339-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.28
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available