M6R (p.Met6Arg) variant of PRKCH (Protein kinase C eta type)
M6R (p.Met6Arg) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M6R (p.Met6Arg) variant details
- p.Met6Arg
- gnomAD 14-61322118-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.37
- MetaLR 0.25
- MetaSVM -0.48
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available