C28F (p.Cys28Phe) variant of SORL1 (Sortilin-related receptor)
C28F (p.Cys28Phe) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C28F (p.Cys28Phe) variant details
- p.Cys28Phe
- gnomAD 11-121452414-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.21
- MetaLR 0.45
- MetaSVM -0.58
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available