N58K (p.Asn58Lys) variant of HBD (Hemoglobin subunit delta)
N58K (p.Asn58Lys) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN A(2) CAMPANIA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
N58K (p.Asn58Lys) variant details
- p.Asn58Lys
- rs35666685
- ClinGen CA124701
- ClinVar RCV000016234
- UniProt VAR 030503
- other
- HEMOGLOBIN A(2) CAMPANIA
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 0.91
- CADD 14.30
- ClinVar: other (HEMOGLOBIN A(2) CAMPANIA)
- EBI: Benign (in Campania)
- UniProt: Benign (in Campania)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. (PMID 12402333)