W16G (p.Trp16Gly) variant of HBB (Hemoglobin subunit beta)
W16G (p.Trp16Gly) 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 RANDWICK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
W16G (p.Trp16Gly) variant details
- p.Trp16Gly
- rs33946157
- ClinGen CA125124
- ClinVar RCV000016564
- UniProt VAR 002878
- other
- HEMOGLOBIN RANDWICK
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- ESM-1b 1.00
- AlphaMissense 0.90
- ClinVar: other (HEMOGLOBIN RANDWICK)
- EBI: Benign (in Randwick)
- UniProt: Benign (in Randwick)
- Structural context available
- Cited in: Hemoglobin Randwick or beta 15 (A12)Trp----Gly: a new unstable beta-chain hemoglobin variant. (PMID 3384707)