W19C (p.Trp19Cys) variant of MCCC1 (Q96RQ3)
W19C (p.Trp19Cys) in MCCC1 (Q96RQ3) 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 and structural context.
W19C (p.Trp19Cys) variant details
- p.Trp19Cys
- gnomAD rs1180041673
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.52
- CADD 26.40
- PolyPhen-2 0.54
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available