Y93N (p.Tyr93Asn) variant of ERCC3 (P19447)
Y93N (p.Tyr93Asn) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Y93N (p.Tyr93Asn) variant details
- p.Tyr93Asn
- ExAC rs768763299
- TOPMed rs768763299
- gnomAD rs768763299
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 25.50
- PolyPhen-2 0.93
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available