M2I (p.Met2Ile) variant of TFRC (Transferrin receptor protein 1)
M2I (p.Met2Ile) 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 0.45 / 1. The record also includes population frequency data and structural context.
M2I (p.Met2Ile) variant details
- p.Met2Ile
- rs748873584
- ClinGen CA2778436
- ClinVar RCV003550459
- ExAC rs748873584
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.20
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available