N58T (p.Asn58Thr) variant of HBD (Hemoglobin subunit delta)
N58T (p.Asn58Thr) 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 Campania. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
N58T (p.Asn58Thr) variant details
- p.Asn58Thr
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53083
- Variant assessed as somatic; moderate impact.
- in Campania
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.92
- MetaSVM 1.05
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact. (in Campania)
- Structural context available