G50D (p.Gly50Asp) variant of CHAMP1 (Q96JM3)
G50D (p.Gly50Asp) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- gnomAD rs1555379336
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- ESM-1b 1.00
- AlphaMissense 0.96
- Structural context available