D22Y (p.Asp22Tyr) variant of HBB (Hemoglobin subunit beta)
D22Y (p.Asp22Tyr) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
D22Y (p.Asp22Tyr) variant details
- p.Asp22Tyr
- rs33950093
- cosmic curated COSV10884
- ClinGen CA125253
- ClinVar RCV000016653
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- ESM-1b 1.00
- AlphaMissense 0.52
- ClinVar: Likely benign (not provided)
- EBI: Benign (in Yusa)
- UniProt: Benign (in Yusa)
- Structural context available
- Cited in: Hb Cocody [beta 21(B3)Asp----Asn] and Hb Yusa [beta 21(B3)ASP----TYR] found in Japan. (PMID 2384310)
- Cited in: Hb Hope [beta 136 (H 14) Gly leads to Asp] in a Japanese family. (PMID 6874374)