Y59C (p.Tyr59Cys) variant of ERCC2 (P18074)
Y59C (p.Tyr59Cys) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y59C (p.Tyr59Cys) variant details
- p.Tyr59Cys
- rs1176128995
- ClinGen CA406379409
- ClinVar RCV001959698
- TOPMed rs1176128995
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.70
- CADD 29.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available