G21V (p.Gly21Val) variant of PRKCH (Protein kinase C eta type)
G21V (p.Gly21Val) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- rs1232213266
- gnomAD 14-61327069-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.50
- MetaSVM -0.13
- CADD 21.80
- Most common in the REMAINING population (allele frequency 7e-05)
- Structural context available
- Literature evidence available