R120H (p.Arg120His) variant of TFRC (Transferrin receptor protein 1)
R120H (p.Arg120His) 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 0.19 / 1. The record also includes population frequency data and structural context.
R120H (p.Arg120His) variant details
- p.Arg120His
- rs747082551
- ClinGen CA2778327
- ClinVar RCV003116869
- ExAC rs747082551
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.06
- CADD 8.70
- PolyPhen-2 0.07
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available