G26C (p.Gly26Cys) variant of HBD (Hemoglobin subunit delta)
G26C (p.Gly26Cys) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in Yokoshima. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G26C (p.Gly26Cys) variant details
- p.Gly26Cys
- Ensembl rs886048395
- Uncertain significance
- in Yokoshima
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.48
- ESM-1b 0.69
- AlphaMissense 0.43
- MetaLR 0.85
- MetaSVM 0.28
- CADD 23.30
- EBI: Variant of uncertain significance (in Yokoshima)
- UniProt: Uncertain significance (in Yokoshima)
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available