N13K (p.Asn13Lys) variant of HBD (Hemoglobin subunit delta)
N13K (p.Asn13Lys) 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) NYU; HEMOGLOBIN NYU. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N13K (p.Asn13Lys) variant details
- p.Asn13Lys
- rs34313675
- ClinGen CA124655
- ClinVar RCV000016199
- ClinVar RCV000016200
- other
- HEMOGLOBIN A(2) NYU; HEMOGLOBIN NYU
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.42
- MetaSVM -0.36
- CADD 0.19
- ClinVar: other (HEMOGLOBIN A(2) NYU; HEMOGLOBIN NYU)
- EBI: Benign (in NYU)
- UniProt: Benign (in NYU)
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. (PMID 12402333)
- Cited in: SIMULTANEOUS OCCURRENCE OF HAEMOGLOBINS C AND LEPORE IN AN AFRO-AMERICAN. (PMID 14222263)