Q33H (p.Gln33His) variant of SORL1 (Sortilin-related receptor)
Q33H (p.Gln33His) 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.
Q33H (p.Gln33His) variant details
- p.Gln33His
- gnomAD 11-121452430-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.25
- MetaLR 0.53
- MetaSVM -0.45
- CADD 20.20
- PolyPhen-2 0.14
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available