P24L (p.Pro24Leu) variant of SORL1 (Sortilin-related receptor)
P24L (p.Pro24Leu) 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.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- gnomAD 11-121452402-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.26
- MetaLR 0.37
- MetaSVM -0.72
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available