R30S (p.Arg30Ser) variant of PRKCH (Protein kinase C eta type)
R30S (p.Arg30Ser) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- rs1484746662
- gnomAD 14-61327091-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.40
- MetaSVM -0.53
- CADD 10.67
- Most common in the Finnish in Finland (FIN) population (allele frequency 8.1e-05)
- Structural context available
- Literature evidence available