A11T (p.Ala11Thr) variant of HBB (Hemoglobin subunit beta)
A11T (p.Ala11Thr) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs63750717
- ClinGen CA217115444
- ClinVar RCV000507628
- TOPMed rs63750717
- Conflicting interpretations
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.53
- MetaSVM -0.36
- CADD 0.56
- ClinVar: Conflicting classifications of pathogenicity (not specified)
- EBI: Variant of uncertain significance (in Iraq-Halabja)
- UniProt: Uncertain significance (in Iraq-Halabja)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available