G48W (p.Gly48Trp) variant of CHAMP1 (Q96JM3)
G48W (p.Gly48Trp) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
G48W (p.Gly48Trp) variant details
- p.Gly48Trp
- cosmic curated COSV10077
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- ESM-1b 1.00
- AlphaMissense 0.87
- Structural context available