F67C (p.Phe67Cys) variant of ERCC5 (P28715)
F67C (p.Phe67Cys) in ERCC5 (P28715) 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 0.45 / 1. The record also includes structural context.
F67C (p.Phe67Cys) variant details
- p.Phe67Cys
- rs761224800
- ClinGen CA388566943
- ClinVar RCV002296602
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.90
- MetaLR 0.35
- MetaSVM -0.38
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available