A2G (p.Ala2Gly) variant of SORL1 (Sortilin-related receptor)
A2G (p.Ala2Gly) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- TOPMed rs1241508891
- gnomAD rs1241508891
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.34
- CADD 24.10
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available