G17S (p.Gly17Ser) variant of PRKCH (Protein kinase C eta type)
G17S (p.Gly17Ser) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- gnomAD 14-61322150-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.30
- MetaSVM -0.64
- CADD 24.40
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available