N20K (p.Asn20Lys) variant of HBB (Hemoglobin subunit beta)
N20K (p.Asn20Lys) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N20K (p.Asn20Lys) variant details
- p.Asn20Lys
- rs63750840
- ClinGen CA124826
- ClinVar RCV000016321
- ClinVar RCV001811149
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.42
- MetaSVM -0.64
- CADD 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Benign (in D-Ouleh RABAH)
- UniProt: Benign (in D-Ouleh RABAH)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Hb D-Ouled Rabah [beta 19(B1)Asn----Lys]. A rare beta chain variant found in a Chinese family. (PMID 3384702)
- Cited in: Two variants of hemoglobin D in the algerian population: hemoglobin D Ouled Rabah 19 (BI) Asn leads to Lys and… (PMID 4719147)