A13D (p.Ala13Asp) variant of HBA1 (Hemoglobin subunit alpha)
A13D (p.Ala13Asp) 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 J (ALJEZUR); HEMOGLOBIN J (PARIS 1). The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- rs35615982
- ClinGen CA125781
- ClinVar RCV000017068
- ClinVar RCV000017069
- other
- HEMOGLOBIN J (ALJEZUR); HEMOGLOBIN J (PARIS 1)
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.56
- MetaLR 0.65
- MetaSVM -0.08
- CADD 16.70
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: other (HEMOGLOBIN J (ALJEZUR); HEMOGLOBIN J (PARIS 1))
- EBI: Benign (in J-Paris 1/J-Aljezur)
- UniProt: Benign (in J-Paris 1/J-Aljezur)
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available
- Cited in: [A new abnormal hemoglobin: hemoglobin Ja-Paris 12 ala---asp]. (PMID 4225453)
- Cited in: A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2). (PMID 486536)