T17I (p.Thr17Ile) variant of SORL1 (Sortilin-related receptor)
T17I (p.Thr17Ile) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- TOPMed rs1230490942
- gnomAD rs1230490942
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.19
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available