H85L (p.His85Leu) variant of CHAMP1 (Q96JM3)
H85L (p.His85Leu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H85L (p.His85Leu) variant details
- p.His85Leu
- gnomAD 13-114324096-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available