N9S (p.Asn9Ser) variant of PRKCH (Protein kinase C eta type)
N9S (p.Asn9Ser) in PRKCH (Protein kinase C eta type) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N9S (p.Asn9Ser) variant details
- p.Asn9Ser
- rs371540089
- ESP rs371540089
- ExAC rs371540089
- TOPMed rs371540089
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.03
- CADD 18.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available