H85R (p.His85Arg) variant of CHAMP1 (Q96JM3)
H85R (p.His85Arg) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
H85R (p.His85Arg) variant details
- p.His85Arg
- gnomAD 13-114324096-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available