p.Leu7 Lys9del variant of CHAMP1 (Q96JM3)
p.Leu7 Lys9del in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu7 Lys9del variant details
- rs782609640
- gnomAD 13-114323858-GAAC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 16.50
- Population evidence available
- Structural context available
- Literature evidence available