Y11C (p.Tyr11Cys) variant of PRKCH (Protein kinase C eta type)
Y11C (p.Tyr11Cys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y11C (p.Tyr11Cys) variant details
- p.Tyr11Cys
- ExAC rs763038774
- TOPMed rs763038774
- gnomAD rs763038774
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.13
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available