Y80C (p.Tyr80Cys) variant of VPS35 (Q96QK1)
Y80C (p.Tyr80Cys) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y80C (p.Tyr80Cys) variant details
- p.Tyr80Cys
- gnomAD rs1375727764
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.69
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available