R121H (p.Arg121His) variant of TFRC (Transferrin receptor protein 1)
R121H (p.Arg121His) 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 0.04 / 1. The record also includes population frequency data and structural context.
R121H (p.Arg121His) variant details
- p.Arg121His
- rs772641140
- ClinGen CA2778325
- NCI-TCGA Cosmic COSV1007
- NCI-TCGA Cosmic COSV6405
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.044
- REVEL 0.02
- CADD 0.78
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available