L33R (p.Leu33Arg) variant of PRKCH (Protein kinase C eta type)
L33R (p.Leu33Arg) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L33R (p.Leu33Arg) variant details
- p.Leu33Arg
- ExAC rs747362339
- gnomAD rs747362339
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.03
- MetaSVM -1.09
- CADD 25.50
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available