M2L (p.Met2Leu) variant of TFRC (Transferrin receptor protein 1)
M2L (p.Met2Leu) 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 0.37 / 1. The record also includes population frequency data and structural context.
M2L (p.Met2Leu) variant details
- p.Met2Leu
- TOPMed rs1213105471
- gnomAD rs1213105471
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.17
- CADD 24.80
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available