A41G (p.Ala41Gly) variant of TFRC (Transferrin receptor protein 1)
A41G (p.Ala41Gly) 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 0.33 / 1. The record also includes population frequency data and structural context.
A41G (p.Ala41Gly) variant details
- p.Ala41Gly
- rs1481317754
- ClinGen CA355579394
- ClinVar RCV001964085
- TOPMed rs1481317754
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.19
- CADD 22.80
- PolyPhen-2 0.79
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available