E27D (p.Glu27Asp) variant of HBD (Hemoglobin subunit delta)
E27D (p.Glu27Asp) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN A(2) PUGLIA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- rs34289459
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99496
- ClinGen CA124689
- other
- HEMOGLOBIN A(2) PUGLIA
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.54
- MetaSVM -0.14
- CADD 9.93
- ClinVar: other (HEMOGLOBIN A(2) PUGLIA)
- EBI: Benign (in Puglia)
- UniProt: Benign (in Puglia)
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available
- Cited in: A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a… (PMID 8401543)