K60V (p.Lys60Val) variant of CHAMP1 (Q96JM3)
K60V (p.Lys60Val) in CHAMP1 (Q96JM3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
K60V (p.Lys60Val) variant details
- p.Lys60Val
- gnomAD 13-114324018-CAA-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 27.60
- Population evidence available
- Structural context available
- Literature evidence available