Y61C (p.Tyr61Cys) variant of ERCC3 (P19447)
Y61C (p.Tyr61Cys) in ERCC3 (P19447) is a missense change. 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.
Y61C (p.Tyr61Cys) variant details
- p.Tyr61Cys
- ExAC rs758329360
- TOPMed rs758329360
- gnomAD rs758329360
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available