D93del (p.Asp93del) variant of CHAMP1 (Q96JM3)
D93del (p.Asp93del) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D93del (p.Asp93del) variant details
- gnomAD 13-114324116-AATG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 17.60
- Population evidence available
- Structural context available
- Literature evidence available