V20M (p.Val20Met) variant of PRKCH (Protein kinase C eta type)
V20M (p.Val20Met) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V20M (p.Val20Met) variant details
- p.Val20Met
- gnomAD 14-61322159-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.45
- MetaSVM -0.10
- CADD 28.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available