F68C (p.Phe68Cys) variant of CHAMP1 (Q96JM3)
F68C (p.Phe68Cys) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F68C (p.Phe68Cys) variant details
- p.Phe68Cys
- gnomAD 13-114324045-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available