T17P (p.Thr17Pro) variant of SORL1 (Sortilin-related receptor)
T17P (p.Thr17Pro) in SORL1 (Sortilin-related receptor) 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, published literature, and structural context.
T17P (p.Thr17Pro) variant details
- p.Thr17Pro
- gnomAD 11-121452380-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.33
- MetaLR 0.37
- MetaSVM -0.96
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available