V75I (p.Val75Ile) variant of TFRC (Transferrin receptor protein 1)
V75I (p.Val75Ile) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
V75I (p.Val75Ile) variant details
- p.Val75Ile
- cosmic curated COSV10746
- ExAC rs774319873
- TOPMed rs774319873
- gnomAD rs774319873
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0499
- REVEL 0.04
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available