Q40K (p.Gln40Lys) variant of HBD (Hemoglobin subunit delta)
Q40K (p.Gln40Lys) 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 0.25 / 1. The record also includes structural context.
Q40K (p.Gln40Lys) variant details
- p.Gln40Lys
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53082
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- ESM-1b 0.00
- AlphaMissense 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available