L90F (p.Leu90Phe) variant of ERCC2 (P18074)
L90F (p.Leu90Phe) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L90F (p.Leu90Phe) variant details
- p.Leu90Phe
- ExAC rs755818754
- gnomAD rs755818754
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.72
- AlphaMissense 0.22
- MetaLR 0.15
- MetaSVM -0.99
- CADD 23.80
- PolyPhen-2 0.12
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available