P24H (p.Pro24His) variant of SORL1 (Sortilin-related receptor)
P24H (p.Pro24His) 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.
P24H (p.Pro24His) variant details
- p.Pro24His
- gnomAD 11-121452402-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.23
- MetaLR 0.44
- MetaSVM -0.58
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available