S2W (p.Ser2Trp) variant of PRKCH (Protein kinase C eta type)
S2W (p.Ser2Trp) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S2W (p.Ser2Trp) variant details
- p.Ser2Trp
- gnomAD 14-61322106-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.15
- MetaSVM -0.83
- CADD 24.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available