S3P (p.Ser3Pro) variant of PRKCH (Protein kinase C eta type)
S3P (p.Ser3Pro) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- gnomAD rs1175984995
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.18
- MetaSVM -0.74
- CADD 24.10
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available