G37D (p.Gly37Asp) variant of SORL1 (Sortilin-related receptor)
G37D (p.Gly37Asp) 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 and structural context.
G37D (p.Gly37Asp) variant details
- p.Gly37Asp
- gnomAD rs1860814619
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.18
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available