H65R (p.His65Arg) variant of CHAMP1 (Q96JM3)
H65R (p.His65Arg) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H65R (p.His65Arg) variant details
- p.His65Arg
- gnomAD 13-114324036-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.69
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available