K60Q (p.Lys60Gln) variant of CHAMP1 (Q96JM3)
K60Q (p.Lys60Gln) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K60Q (p.Lys60Gln) variant details
- p.Lys60Gln
- gnomAD 13-114324020-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -1.04
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available