K18N (p.Lys18Asn) variant of HBB (Hemoglobin subunit beta)
K18N (p.Lys18Asn) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN J (AMIENS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K18N (p.Lys18Asn) variant details
- p.Lys18Asn
- rs36006214
- ClinGen CA124929
- ClinVar RCV000016397
- UniProt VAR 002883
- other
- HEMOGLOBIN J (AMIENS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.81
- MetaSVM 0.61
- CADD 23.00
- ClinVar: other (HEMOGLOBIN J (AMIENS))
- EBI: Benign (in J-Amiens)
- UniProt: Benign (in J-Amiens)
- Population evidence available
- Structural context available
- Cited in: [Hemoglobin J Amiens beta 17 (A 14) Lys replaced by Asn. Coincidence of a functionally silent new abnormal hemoglobin… (PMID 121938)
- Cited in: Hb J-Amiens [beta 17(A14)Lys----Asn] found in a Japanese. (PMID 2101004)