A26T (p.Ala26Thr) variant of SORL1 (Sortilin-related receptor)
A26T (p.Ala26Thr) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- gnomAD 11-121452407-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.21
- MetaLR 0.45
- MetaSVM -0.20
- CADD 20.80
- PolyPhen-2 0.13
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available