A26S (p.Ala26Ser) variant of SORL1 (Sortilin-related receptor)
A26S (p.Ala26Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD 11-121452407-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.26
- MetaLR 0.45
- MetaSVM -0.16
- CADD 20.90
- PolyPhen-2 0.17
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available