K18N (p.Lys18Asn) variant of HBD (Hemoglobin subunit delta)
K18N (p.Lys18Asn) 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 0.76 / 1. The record also includes structural context.
K18N (p.Lys18Asn) variant details
- p.Lys18Asn
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53082
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- ESM-1b 1.00
- AlphaMissense 0.52
- MetaLR 0.71
- MetaSVM 0.45
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available