G37D (p.Gly37Asp) variant of PRKCH (Protein kinase C eta type)
G37D (p.Gly37Asp) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G37D (p.Gly37Asp) variant details
- p.Gly37Asp
- rs1241326555
- gnomAD 14-61327087-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.50
- MetaSVM -0.13
- CADD 21.00
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available