W16R (p.Trp16Arg) variant of HBB (Hemoglobin subunit beta)
W16R (p.Trp16Arg) 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 BELFAST. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
W16R (p.Trp16Arg) variant details
- p.Trp16Arg
- rs33946157
- ClinGen CA124742
- ClinVar RCV000016261
- UniProt VAR 002879
- other
- HEMOGLOBIN BELFAST
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: other (HEMOGLOBIN BELFAST)
- EBI: Benign (in Belfast)
- UniProt: Benign (in Belfast)
- Structural context available
- Cited in: Hb Belfast [beta15(A12)Trp-->Arg]: definition of the clinical and hematological phenotype. (PMID 15481889)
- Cited in: Haemoglobin Belfast 15 (A12) tryptophan leading to arginine: a new unstable haemoglobin variant. (PMID 4434089)