S2L (p.Ser2Leu) variant of PRKCH (Protein kinase C eta type)
S2L (p.Ser2Leu) in PRKCH (Protein kinase C eta type) is a missense change. 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.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- TOPMed rs958832530
- gnomAD rs958832530
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.07
- ESM-1b 0.89
- AlphaMissense 0.16
- MetaLR 0.15
- MetaSVM -0.87
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available