P23T (p.Pro23Thr) variant of SORL1 (Sortilin-related receptor)
P23T (p.Pro23Thr) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- gnomAD 11-121452398-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.20
- MetaLR 0.44
- MetaSVM -0.54
- CADD 20.80
- PolyPhen-2 0.03
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available