C16Y (p.Cys16Tyr) variant of CHAMP1 (Q96JM3)
C16Y (p.Cys16Tyr) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
C16Y (p.Cys16Tyr) variant details
- p.Cys16Tyr
- gnomAD 13-114323889-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available