Q40H (p.Gln40His) variant of HBD (Hemoglobin subunit delta)
Q40H (p.Gln40His) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- rs281864505
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53083
- Ensembl rs281864505
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.89
- MetaSVM 0.93
- PolyPhen-2 0.89
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available