D48N (p.Asp48Asn) variant of HBD (Hemoglobin subunit delta)
D48N (p.Asp48Asn) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in Parkville. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53082
- NCI-TCGA Cosmic COSV9949
- Variant assessed as somatic; moderate impact.
- in Parkville
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.13
- UniProt: Variant assessed as somatic; moderate impact. (in Parkville)
- Structural context available