R11Q (p.Arg11Gln) variant of SORL1 (Sortilin-related receptor)
R11Q (p.Arg11Gln) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- gnomAD 11-121452363-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.27
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available