S10Y (p.Ser10Tyr) variant of HBB (Hemoglobin subunit beta)
S10Y (p.Ser10Tyr) 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 D (AGRI). The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
S10Y (p.Ser10Tyr) variant details
- p.Ser10Tyr
- rs33918131
- ClinGen CA125538
- ClinVar RCV000016858
- ClinVar RCV000016886
- other
- HEMOGLOBIN D (AGRI)
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- ESM-1b 1.00
- AlphaMissense 0.32
- ClinVar: other (HEMOGLOBIN D (AGRI))
- EBI: Benign (in Porto Alegre)
- UniProt: Benign (in Porto Alegre)
- Structural context available
- Cited in: Hb D-Agri [beta9(A6)Ser --> Tyr;beta121(GH4)Glu --> Gln]: a new Indian hemoglobin variant with two amino acid… (PMID 11570725)
- Cited in: Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)]. (PMID 15768558)