P112S (p.Pro112Ser) variant of TFRC (Transferrin receptor protein 1)
P112S (p.Pro112Ser) 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 0.29 / 1. The record also includes structural context.
P112S (p.Pro112Ser) variant details
- p.Pro112Ser
- rs1055233025
- ClinGen CA90760737
- ClinVar RCV003713765
- Ensembl rs1055233025
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.35
- MutPred 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available