R100I (p.Arg100Ile) variant of TFRC (Transferrin receptor protein 1)
R100I (p.Arg100Ile) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from ClinVar 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 0.07 / 1. The record also includes population frequency data and structural context.
R100I (p.Arg100Ile) variant details
- p.Arg100Ile
- TOPMed rs886727487
- gnomAD rs886727487
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0696
- REVEL 0.07
- CADD 1.58
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available