W15R (p.Trp15Arg) variant of HBA1 (Hemoglobin subunit alpha)
W15R (p.Trp15Arg) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; alpha Thalassemia; Hemoglobin H disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W15R (p.Trp15Arg) variant details
- p.Trp15Arg
- rs281864810
- ClinGen CA276414361
- ClinVar RCV003988557
- ClinVar RCV005006350
- Likely pathogenic
- not provided; alpha Thalassemia; Hemoglobin H disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.05
- SIFT 0.00
- MutPred 0.30
- ClinVar: Likely pathogenic (alpha Thalassemia)
- EBI: Likely pathogenic (in Evanston)
- UniProt: Likely pathogenic (in Evanston)
- Population evidence available
- Structural context available
- Cited in: Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia. (PMID 6725558)
- Cited in: Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2. (PMID 6882779)