K35R (p.Lys35Arg) variant of PRKCH (Protein kinase C eta type)
K35R (p.Lys35Arg) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K35R (p.Lys35Arg) variant details
- p.Lys35Arg
- ExAC rs748549094
- gnomAD rs748549094
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -0.99
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available