G47D (p.Gly47Asp) variant of CHAMP1 (Q96JM3)
G47D (p.Gly47Asp) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- TOPMed rs1170064140
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.80
- MetaLR 0.01
- MetaSVM -0.79
- CADD 25.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available