D32N (p.Asp32Asn) variant of TFRC (Transferrin receptor protein 1)
D32N (p.Asp32Asn) 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 0.40 / 1. The record also includes population frequency data and structural context.
D32N (p.Asp32Asn) variant details
- p.Asp32Asn
- rs772905975
- ClinGen CA2778398
- ClinVar RCV003829499
- ExAC rs772905975
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.20
- CADD 25.00
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available