H3Q (p.His3Gln) variant of HBB (Hemoglobin subunit beta)
H3Q (p.His3Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H3Q (p.His3Gln) variant details
- p.His3Gln
- rs713040
- ClinGen CA125078
- ClinVar RCV000016529
- ClinVar RCV003736540
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.48
- ESM-1b 0.40
- AlphaMissense 0.23
- MetaLR 0.61
- MetaSVM -0.54
- CADD 0.72
- ClinVar: Likely benign (not specified)
- EBI: Benign (in Okayama)
- UniProt: Benign (in Okayama)
- Population evidence available
- Structural context available
- Cited in: Hemoglobin Okayama [beta 2 (NA 2) His replaced by Gln]: a new 'silent' hemoglobin variant with substituted amino acid… (PMID 6852251)