E16D (p.Glu16Asp) variant of TFRC (Transferrin receptor protein 1)
E16D (p.Glu16Asp) 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 0.16 / 1. The record also includes population frequency data and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- ExAC rs768479499
- gnomAD rs768479499
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.11
- CADD 15.20
- PolyPhen-2 0.34
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available