I71V (p.Ile71Val) variant of TFRC (Transferrin receptor protein 1)
I71V (p.Ile71Val) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
I71V (p.Ile71Val) variant details
- p.Ile71Val
- rs1006096745
- ClinGen CA90761899
- ClinVar RCV003881557
- ClinVar RCV005752320
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0704
- REVEL 0.07
- CADD 1.40
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)