C28Y (p.Cys28Tyr) variant of SORL1 (Sortilin-related receptor)
C28Y (p.Cys28Tyr) 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.
C28Y (p.Cys28Tyr) variant details
- p.Cys28Tyr
- gnomAD 11-121452414-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.20
- MetaLR 0.43
- MetaSVM -0.58
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available