D81N (p.Asp81Asn) variant of ERCC3 (P19447)
D81N (p.Asp81Asn) 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 0.46 / 1. The record also includes population frequency data and structural context.
D81N (p.Asp81Asn) variant details
- p.Asp81Asn
- cosmic curated COSV53429
- TOPMed rs1453017999
- gnomAD rs1453017999
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available