H36Q (p.His36Gln) variant of SORL1 (Sortilin-related receptor)
H36Q (p.His36Gln) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- gnomAD 11-121452439-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.26
- MetaLR 0.56
- MetaSVM -0.42
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available