T17N (p.Thr17Asn) variant of SORL1 (Sortilin-related receptor)
T17N (p.Thr17Asn) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T17N (p.Thr17Asn) variant details
- p.Thr17Asn
- TOPMed rs1230490942
- gnomAD rs1230490942
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.21
- CADD 20.90
- PolyPhen-2 0.03
- SIFT 0.22
- Population evidence available
- Structural context available