P73T (p.Pro73Thr) variant of HFE (Q30201)
P73T (p.Pro73Thr) in HFE (Q30201) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P73T (p.Pro73Thr) variant details
- p.Pro73Thr
- rs1450662478
- NCI-TCGA Cosmic COSV5851
- cosmic curated COSV58512
- TOPMed rs1450662478
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.10
- CADD 11.90
- PolyPhen-2 0.29
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available