P23S (p.Pro23Ser) variant of SORL1 (Sortilin-related receptor)
P23S (p.Pro23Ser) 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.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- gnomAD 11-121452398-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.22
- MetaLR 0.42
- MetaSVM -0.61
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available