R27L (p.Arg27Leu) variant of TFRC (Transferrin receptor protein 1)
R27L (p.Arg27Leu) 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 0.39 / 1. The record also includes population frequency data and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- rs1041899549
- ClinGen CA90762102
- cosmic curated COSV10746
- ClinVar RCV001988963
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.23
- CADD 25.10
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available