H36R (p.His36Arg) variant of SORL1 (Sortilin-related receptor)
H36R (p.His36Arg) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H36R (p.His36Arg) variant details
- p.His36Arg
- gnomAD 11-121452438-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.28
- MetaLR 0.49
- MetaSVM -0.62
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available