P59R (p.Pro59Arg) variant of TFRC (Transferrin receptor protein 1)
P59R (p.Pro59Arg) 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 0.11 / 1. The record also includes population frequency data and structural context.
P59R (p.Pro59Arg) variant details
- p.Pro59Arg
- rs777738270
- ClinGen CA2778384
- ClinVar RCV003867410
- ExAC rs777738270
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.03
- CADD 6.45
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available