A72V (p.Ala72Val) variant of TFRC (Transferrin receptor protein 1)
A72V (p.Ala72Val) 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 structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- rs760231105
- ClinGen CA355578987
- cosmic curated COSV10820
- ClinVar RCV002766885
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.10
- MetaLR 0.27
- MetaSVM -0.68
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available