Q33E (p.Gln33Glu) variant of SORL1 (Sortilin-related receptor)
Q33E (p.Gln33Glu) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q33E (p.Gln33Glu) variant details
- p.Gln33Glu
- gnomAD 11-121452428-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.23
- MetaLR 0.51
- MetaSVM -0.56
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available