A2E (p.Ala2Glu) variant of SORL1 (Sortilin-related receptor)
A2E (p.Ala2Glu) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- TOPMed rs1241508891
- gnomAD rs1241508891
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.38
- CADD 24.00
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available