T17S (p.Thr17Ser) variant of SORL1 (Sortilin-related receptor)
T17S (p.Thr17Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T17S (p.Thr17Ser) variant details
- p.Thr17Ser
- gnomAD 11-121452381-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.23
- MetaLR 0.39
- MetaSVM -0.66
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available