R11T (p.Arg11Thr) variant of SORL1 (Sortilin-related receptor)
R11T (p.Arg11Thr) in SORL1 (Sortilin-related receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R11T (p.Arg11Thr) variant details
- p.Arg11Thr
- gnomAD 11-121452359-TCG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available