S32L (p.Ser32Leu) variant of PRKCH (Protein kinase C eta type)
S32L (p.Ser32Leu) 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 0.40 / 1. The record also includes population frequency data and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- rs1253785238
- TOPMed rs1253785238
- gnomAD rs1253785238
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.09
- CADD 26.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available