G26S (p.Gly26Ser) variant of HBD (Hemoglobin subunit delta)
G26S (p.Gly26Ser) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fetal hemoglobin quantitative trait locus 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G26S (p.Gly26Ser) variant details
- p.Gly26Ser
- rs886048395
- ClinGen CA10631039
- ClinVar RCV000283247
- Ensembl rs886048395
- Uncertain significance
- Fetal hemoglobin quantitative trait locus 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.68
- MetaSVM -0.09
- CADD 21.80
- ClinVar: Uncertain significance (Fetal hemoglobin quantitative trait locus 1)
- EBI: Variant of uncertain significance (in Yokoshima)
- UniProt: Uncertain significance (in Yokoshima)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available