E27Q (p.Glu27Gln) variant of CHAMP1 (Q96JM3)
E27Q (p.Glu27Gln) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- cosmic curated COSV63523
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- ESM-1b 0.00
- AlphaMissense 0.39
- Structural context available