K7R (p.Lys7Arg) variant of PRKCH (Protein kinase C eta type)
K7R (p.Lys7Arg) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- TOPMed rs1348096883
- gnomAD rs1348096883
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -0.96
- CADD 20.90
- Most common in the Latino/Admixed American population (allele frequency 0.00012)
- Structural context available