V42I (p.Val42Ile) variant of TFRC (Transferrin receptor protein 1)
V42I (p.Val42Ile) 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 0.25 / 1. The record also includes population frequency data and structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- rs1718586256
- ClinGen CA355579393
- ClinVar RCV001351669
- Ensembl rs1718586256
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.07
- CADD 14.70
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available