T3K (p.Thr3Lys) variant of SORL1 (Sortilin-related receptor)
T3K (p.Thr3Lys) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T3K (p.Thr3Lys) variant details
- p.Thr3Lys
- gnomAD 11-121452339-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.30
- CADD 22.70
- PolyPhen-2 0.11
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available