E37G (p.Glu37Gly) variant of TFRC (Transferrin receptor protein 1)
E37G (p.Glu37Gly) in TFRC (Transferrin receptor protein 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 0.56 / 1. The record also includes population frequency data and structural context.
E37G (p.Glu37Gly) variant details
- p.Glu37Gly
- rs1718587665
- ClinGen CA355579426
- ClinVar RCV003665776
- Ensembl rs1718587665
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.48
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available