T5I (p.Thr5Ile) variant of HBD (Hemoglobin subunit delta)
T5I (p.Thr5Ile) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- rs35406175
- ClinGen CA5840007
- ClinVar RCV004692231
- ClinVar RCV005400467
- Uncertain significance
- not provided; Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.68
- MetaSVM 0.26
- CADD 14.90
- ClinVar: Uncertain significance (not provided; Thalassemia)
- EBI: Variant of uncertain significance (in dbSNP:rs35406175)
- UniProt: Uncertain significance (in dbSNP:rs35406175)
- Most common in the 1KG:MXL population (allele frequency 0.024)
- Structural context available
- Cited in: Analysis of delta-globin gene mutations in Greek cypriots. (PMID 8364213)
- Cited in: Beta-Thalassemia. (PMID 20301599)