A6P (p.Ala6Pro) variant of HBA1 (Hemoglobin subunit alpha)
A6P (p.Ala6Pro) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN KARACHI. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- rs34751764
- ClinGen CA125797
- ClinVar RCV000017078
- UniProt VAR 002722
- other
- HEMOGLOBIN KARACHI
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.08
- MetaLR 0.73
- MetaSVM 0.00
- SIFT 0.15
- MutPred 0.24
- ClinVar: other (HEMOGLOBIN KARACHI)
- EBI: Benign (in Karachi)
- UniProt: Benign (in Karachi)
- Structural context available
- Cited in: Abnormal hemoglobins 11-Hb (Karachi), an alpha chain abnormality at position 5 Ala----Pro. (PMID 3097343)