A20T (p.Ala20Thr) variant of SORL1 (Sortilin-related receptor)
A20T (p.Ala20Thr) 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.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- gnomAD 11-121452389-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.23
- MetaLR 0.47
- MetaSVM -0.56
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available