K8N (p.Lys8Asn) variant of HBA1 (Hemoglobin subunit alpha)
K8N (p.Lys8Asn) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K8N (p.Lys8Asn) variant details
- p.Lys8Asn
- rs281860604
- ClinGen CA393992925
- ClinVar RCV001001102
- ClinVar RCV001832318
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.55
- MetaLR 0.84
- MetaSVM 0.56
- CADD 24.10
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Variant of uncertain significance (in Kurosaki)
- UniProt: Uncertain significance (in Kurosaki)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Two new alpha chain variants found during glycated hemoglobin screening: Hb Tatras [alpha 7(A5)Lys-->Asn] and HB Lisbon… (PMID 7713746)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)