G17R (p.Gly17Arg) variant of HBB (Hemoglobin subunit beta)
G17R (p.Gly17Arg) 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 D (BUSHMAN). The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs63751285
- ClinGen CA124816
- ClinVar RCV000016311
- UniProt VAR 002881
- other
- HEMOGLOBIN D (BUSHMAN)
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- ESM-1b 1.00
- AlphaMissense 0.36
- ClinVar: other (HEMOGLOBIN D (BUSHMAN))
- EBI: Benign (in D-Bushman)
- UniProt: Benign (in D-Bushman)
- Structural context available
- Cited in: Letter: Amino-acid substitution in the alpha 1 beta 1 intersubunit contact of haemoglobin-Camden beta 131 (h9) g1n… (PMID 4550044)