Y95C (p.Tyr95Cys) variant of ERCC3 (P19447)
Y95C (p.Tyr95Cys) in ERCC3 (P19447) 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 0.68 / 1. The record also includes population frequency data and structural context.
Y95C (p.Tyr95Cys) variant details
- p.Tyr95Cys
- rs2468068048
- ClinGen CA348391859
- ClinVar RCV002715939
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.69
- ESM-1b 0.74
- AlphaMissense 0.42
- CADD 28.00
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available