Q98H (p.Gln98His) variant of CHAMP1 (Q96JM3)
Q98H (p.Gln98His) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q98H (p.Gln98His) variant details
- p.Gln98His
- gnomAD 13-114324136-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available