Y25C (p.Tyr25Cys) variant of HBA1 (Hemoglobin subunit alpha)
Y25C (p.Tyr25Cys) in HBA1 (Hemoglobin subunit alpha) 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 0.59 / 1. The record also includes structural context.
Y25C (p.Tyr25Cys) variant details
- p.Tyr25Cys
- rs28928880
- ClinGen CA125969
- ClinVar RCV000017206
- ClinVar RCV005237386
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- AlphaMissense 0.47
- MetaLR 0.72
- MetaSVM 0.07
- SIFT 0.00
- MutPred 0.86
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in Luxembourg)
- UniProt: Uncertain significance (in Luxembourg)
- Structural context available