Q33K (p.Gln33Lys) variant of SORL1 (Sortilin-related receptor)
Q33K (p.Gln33Lys) 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.
Q33K (p.Gln33Lys) variant details
- p.Gln33Lys
- gnomAD 11-121452428-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.24
- MetaLR 0.47
- MetaSVM -0.69
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available