V52M (p.Val52Met) variant of PRKCH (Protein kinase C eta type)
V52M (p.Val52Met) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- ESP rs148375974
- ExAC rs148375974
- TOPMed rs148375974
- gnomAD rs148375974
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.17
- ESM-1b 0.02
- AlphaMissense 0.10
- MetaLR 0.34
- MetaSVM -0.44
- CADD 24.70
- Most common in the Ashkenazi Jewish population (allele frequency 0.0023)
- Structural context available