Y32C (p.Tyr32Cys) variant of C9ORF72 (Q96LT7)
Y32C (p.Tyr32Cys) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y32C (p.Tyr32Cys) variant details
- p.Tyr32Cys
- ExAC rs775414064
- gnomAD rs775414064
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.41
- CADD 28.60
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available