M38V (p.Met38Val) variant of TFRC (Transferrin receptor protein 1)
M38V (p.Met38Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
M38V (p.Met38Val) variant details
- p.Met38Val
- rs1477368569
- ClinGen CA355579421
- ClinVar RCV002796885
- TOPMed rs1477368569
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.14
- CADD 23.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available