Y20H (p.Tyr20His) variant of TFRC (Transferrin receptor protein 1)
Y20H (p.Tyr20His) 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 TFRC-related combined immunodeficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y20H (p.Tyr20His) variant details
- p.Tyr20His
- rs863225436
- ClinGen CA279895
- ClinVar RCV000202386
- ClinVar RCV000203305
- Conflicting interpretations
- TFRC-related combined immunodeficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.45
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (TFRC-related combined immunodeficiency; not provided)
- EBI: Pathogenic (in IMD46)
- UniProt: Pathogenic (in IMD46)
- Population evidence available
- Structural context available
- Cited in: A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. (PMID 26642240)