G19R (p.Gly19Arg) variant of HBA1 (Hemoglobin subunit alpha)
G19R (p.Gly19Arg) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- rs63750294
- ClinGen CA276414398
- ClinVar RCV001801164
- ClinVar RCV003120692
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.59
- MetaLR 0.80
- MetaSVM 0.76
- SIFT 0.01
- MutPred 0.18
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in Handsworth)
- UniProt: Likely benign (in Handsworth)
- Structural context available
- Cited in: Hemoglobin Handsworth or alpha2 18(A16)Gly----Arg beta2 in a Saudi newborn. (PMID 4030381)
- Cited in: Hemoglobin Handsworth (gamma 18 (A16) Gly leads to Arg) in a Chinese. (PMID 7216818)