A2T (p.Ala2Thr) variant of SORL1 (Sortilin-related receptor)
A2T (p.Ala2Thr) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 11-121452335-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.31
- CADD 24.30
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available