G26D (p.Gly26Asp) variant of HBD (Hemoglobin subunit delta)
G26D (p.Gly26Asp) 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) YOKOSHIMA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- rs34389944
- ClinGen CA124665
- ClinVar RCV000016205
- UniProt VAR 003103
- other
- HEMOGLOBIN A(2) YOKOSHIMA
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.81
- MetaSVM 0.12
- CADD 22.30
- ClinVar: other (HEMOGLOBIN A(2) YOKOSHIMA)
- EBI: Benign (in Yokoshima)
- UniProt: Benign (in Yokoshima)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly----Asp, a new delta chain variant found in a Japanese family. (PMID 3841531)