T5N (p.Thr5Asn) variant of HBB (Hemoglobin subunit beta)
T5N (p.Thr5Asn) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar 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 0.43 / 1. The record also includes population frequency data and structural context.
T5N (p.Thr5Asn) variant details
- p.Thr5Asn
- Ensembl rs63750605
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.72
- MetaSVM 0.09
- CADD 10.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available