R11L (p.Arg11Leu) variant of SORL1 (Sortilin-related receptor)
R11L (p.Arg11Leu) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- gnomAD 11-121452363-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.25
- CADD 25.00
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available