A20A (p.Ala20Ala) variant of SORL1 (Sortilin-related receptor)
A20A (p.Ala20Ala) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A20A (p.Ala20Ala) variant details
- p.Ala20Ala
- gnomAD 11-121452391-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available