L12I (p.Leu12Ile) variant of SORL1 (Sortilin-related receptor)
L12I (p.Leu12Ile) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- gnomAD 11-121452365-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.21
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available