F67L (p.Phe67Leu) variant of ERCC5 (P28715)
F67L (p.Phe67Leu) in ERCC5 (P28715) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
F67L (p.Phe67Leu) variant details
- p.Phe67Leu
- NCI-TCGA TCGA novel
- Ensembl rs1882232677
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 29.60
- PolyPhen-2 0.34
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available