C68F (p.Cys68Phe) variant of FERMT1 (Fermitin family homolog 1)
C68F (p.Cys68Phe) in FERMT1 (Fermitin family homolog 1) 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 0.36 / 1. The record also includes structural context.
C68F (p.Cys68Phe) variant details
- p.Cys68Phe
- rs2123150728
- ClinGen CA408192966
- ClinVar RCV002038757
- Ensembl rs2123150728
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.13
- MetaLR 0.04
- MetaSVM -1.08
- PolyPhen-2 0.90
- SIFT 0.70
- EVE 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available