A14D (p.Ala14Asp) variant of HBB (Hemoglobin subunit beta)
A14D (p.Ala14Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN J (LENS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- rs35203747
- ClinGen CA124955
- cosmic curated COSV58942
- ClinVar RCV000016420
- other
- HEMOGLOBIN J (LENS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- ESM-1b 0.00
- AlphaMissense 0.19
- ClinVar: other (HEMOGLOBIN J (LENS))
- EBI: Benign (in J-Lens)
- UniProt: Benign (in J-Lens)
- Structural context available
- Cited in: Structural studies of a new hemoglobin: HbJ lens, beta 13(A10) Ala leads to Asp. (PMID 7319057)