L30P (p.Leu30Pro) variant of HBA1 (Hemoglobin subunit alpha)
L30P (p.Leu30Pro) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- TOPMed rs1195271113
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.91
- MetaLR 0.93
- MetaSVM 1.00
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.04
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available
- Cited in: A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia. (PMID 8136277)
- Cited in: An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant. (PMID 9629496)