K7N (p.Lys7Asn) variant of PRKCH (Protein kinase C eta type)
K7N (p.Lys7Asn) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K7N (p.Lys7Asn) variant details
- p.Lys7Asn
- TOPMed rs1443653480
- gnomAD rs1443653480
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.08
- ESM-1b 0.07
- AlphaMissense 0.64
- MetaLR 0.22
- MetaSVM -0.79
- CADD 22.40
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available