K36R (p.Lys36Arg) variant of PRKCH (Protein kinase C eta type)
K36R (p.Lys36Arg) in PRKCH (Protein kinase C eta type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K36R (p.Lys36Arg) variant details
- p.Lys36Arg
- rs1805626087
- ClinGen CA390094362
- ClinVar RCV004515151
- TOPMed rs1805626087
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.04
- CADD 23.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available