T10I (p.Thr10Ile) variant of HBD (Hemoglobin subunit delta)
T10I (p.Thr10Ile) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- rs762782488
- ClinGen CA5840002
- ClinVar RCV004399276
- ExAC rs762782488
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.59
- ESM-1b 0.59
- AlphaMissense 0.17
- MetaLR 0.46
- MetaSVM -0.60
- CADD 2.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.024)
- Structural context available