C16R (p.Cys16Arg) variant of CHAMP1 (Q96JM3)
C16R (p.Cys16Arg) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
C16R (p.Cys16Arg) variant details
- p.Cys16Arg
- gnomAD 13-114323888-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available