L21P (p.Leu21Pro) variant of SORL1 (Sortilin-related receptor)
L21P (p.Leu21Pro) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- gnomAD 11-121452393-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.66
- MetaLR 0.60
- MetaSVM 0.03
- CADD 25.30
- PolyPhen-2 0.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available