A20S (p.Ala20Ser) variant of SORL1 (Sortilin-related receptor)
A20S (p.Ala20Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 11-121452389-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.23
- MetaLR 0.49
- MetaSVM -0.57
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available