D8N (p.Asp8Asn) variant of ERCC3 (P19447)
D8N (p.Asp8Asn) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D8N (p.Asp8Asn) variant details
- p.Asp8Asn
- cosmic curated COSV53426
- ExAC rs756810937
- gnomAD rs756810937
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.06
- ESM-1b 0.40
- AlphaMissense 0.15
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.22
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available