F54C (p.Phe54Cys) variant of CHAMP1 (Q96JM3)
F54C (p.Phe54Cys) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F54C (p.Phe54Cys) variant details
- p.Phe54Cys
- gnomAD 13-114324003-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available