G84A (p.Gly84Ala) variant of TFRC (Transferrin receptor protein 1)
G84A (p.Gly84Ala) 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 0.57 / 1. The record also includes population frequency data and structural context.
G84A (p.Gly84Ala) variant details
- p.Gly84Ala
- rs1325960959
- ClinGen CA355578716
- ClinVar RCV003700788
- gnomAD rs1325960959
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.41
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available