Q45L (p.Gln45Leu) variant of ERCC3 (P19447)
Q45L (p.Gln45Leu) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q45L (p.Gln45Leu) variant details
- p.Gln45Leu
- ExAC rs749797540
- TOPMed rs749797540
- gnomAD rs749797540
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available