Q39R (p.Gln39Arg) variant of PRKCH (Protein kinase C eta type)
Q39R (p.Gln39Arg) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q39R (p.Gln39Arg) variant details
- p.Gln39Arg
- Ensembl rs2045635713
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.23
- MetaSVM -0.73
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available