G20E (p.Gly20Glu) variant of PCCB (P05166)
G20E (p.Gly20Glu) 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.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- rs1353478434
- gnomAD 3-136251288-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 1.15
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available