S3R (p.Ser3Arg) variant of PRKCH (Protein kinase C eta type)
S3R (p.Ser3Arg) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S3R (p.Ser3Arg) variant details
- p.Ser3Arg
- rs1194092550
- gnomAD 14-61326999-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.31
- MetaSVM -0.79
- CADD 2.04
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available