L12P (p.Leu12Pro) variant of SORL1 (Sortilin-related receptor)
L12P (p.Leu12Pro) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 11-121452366-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.58
- CADD 25.10
- PolyPhen-2 0.38
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available