T42S (p.Thr42Ser) variant of HBA1 (Hemoglobin subunit alpha)
T42S (p.Thr42Ser) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN MIYANO. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
T42S (p.Thr42Ser) variant details
- p.Thr42Ser
- rs34890875
- ClinGen CA125829
- ClinVar RCV000017115
- Ensembl rs34890875
- other
- HEMOGLOBIN MIYANO
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.79
- AlphaMissense 0.75
- MetaLR 0.84
- MetaSVM 0.71
- CADD 25.50
- PolyPhen-2 0.99
- ClinVar: other (HEMOGLOBIN MIYANO)
- EBI: Benign (in Miyano)
- UniProt: Benign (in Miyano)
- Population evidence available
- Structural context available
- Cited in: Hb Miyano or alpha 41(C6)Thr----Ser: a new high oxygen affinity alpha chain variant found in an erythremic blood donor. (PMID 2634665)