E37D (p.Glu37Asp) variant of PCCB (P05166)
E37D (p.Glu37Asp) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E37D (p.Glu37Asp) variant details
- p.Glu37Asp
- gnomAD 3-136251247-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 6.91
- Population evidence available
- Structural context available
- Literature evidence available