D5N (p.Asp5Asn) variant of ERCC3 (P19447)
D5N (p.Asp5Asn) 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 0.35 / 1. The record also includes population frequency data and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- rs2468073640
- ClinGen CA348392477
- ClinVar RCV002801296
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available