Y56C (p.Tyr56Cys) variant of ERCC3 (P19447)
Y56C (p.Tyr56Cys) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Y56C (p.Tyr56Cys) variant details
- p.Tyr56Cys
- TOPMed rs1685353469
- gnomAD rs1685353469
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.37
- ESM-1b 0.49
- AlphaMissense 0.72
- CADD 29.30
- PolyPhen-2 0.66
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available