H3Y (p.His3Tyr) variant of HBB (Hemoglobin subunit beta)
H3Y (p.His3Tyr) 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 FUKUOKA. 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.
H3Y (p.His3Tyr) variant details
- p.His3Tyr
- rs35906307
- ClinGen CA124845
- ClinVar RCV000016339
- UniProt VAR 002860
- other
- HEMOGLOBIN FUKUOKA
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.67
- MetaSVM 0.15
- CADD 17.00
- ClinVar: other (HEMOGLOBIN FUKUOKA)
- EBI: Benign (in Fukuoka)
- UniProt: Benign (in Fukuoka)
- Population evidence available
- Structural context available
- Cited in: Hb J-Amiens [beta 17(A14)Lys----Asn] found in a Japanese. (PMID 2101004)