F16C (p.Phe16Cys) variant of SORL1 (Sortilin-related receptor)
F16C (p.Phe16Cys) 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.
F16C (p.Phe16Cys) variant details
- p.Phe16Cys
- gnomAD 11-121452378-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.26
- MetaLR 0.51
- MetaSVM -0.29
- CADD 24.70
- PolyPhen-2 0.16
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available