A14V (p.Ala14Val) variant of HBB (Hemoglobin subunit beta)
A14V (p.Ala14Val) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs35203747
- ClinGen CA379274902
- ClinVar RCV000759799
- ClinVar RCV001194401
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.59
- ESM-1b 0.32
- AlphaMissense 0.15
- MetaLR 0.57
- MetaSVM -0.31
- CADD 0.54
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance (in J-Lens)
- UniProt: Uncertain significance (in J-Lens)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)