T3A (p.Thr3Ala) variant of SORL1 (Sortilin-related receptor)
T3A (p.Thr3Ala) in SORL1 (Sortilin-related receptor) is a missense 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.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- gnomAD 11-121452338-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.28
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available