G37C (p.Gly37Cys) variant of PRKCH (Protein kinase C eta type)
G37C (p.Gly37Cys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G37C (p.Gly37Cys) variant details
- p.Gly37Cys
- rs932248801
- gnomAD 14-61327086-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.50
- MetaSVM -0.13
- CADD 20.80
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available