S48S (p.Ser48Ser) variant of PRKCH (Protein kinase C eta type)
S48S (p.Ser48Ser) in PRKCH (Protein kinase C eta type) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- rs923637190
- gnomAD 14-61322245-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 15.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available