Q45E (p.Gln45Glu) variant of ERCC3 (P19447)
Q45E (p.Gln45Glu) in ERCC3 (P19447) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q45E (p.Gln45Glu) variant details
- p.Gln45Glu
- gnomAD rs1685354796
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.18
- MetaSVM -0.88
- CADD 22.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available