S36P (p.Ser36Pro) variant of HBA1 (Hemoglobin subunit alpha)
S36P (p.Ser36Pro) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
S36P (p.Ser36Pro) variant details
- p.Ser36Pro
- rs63750776
- ClinGen CA276414554
- ClinVar RCV001284140
- ClinVar RCV001678591
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- AlphaMissense 0.91
- MetaLR 0.82
- MetaSVM 0.33
- SIFT 0.00
- MutPred 0.78
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hb H hydrops foetalis syndrome: a case report and review of literature. (PMID 11722414)