G17R (p.Gly17Arg) variant of HBD (Hemoglobin subunit delta)
G17R (p.Gly17Arg) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN A(2)-PRIME; HEMOGLOBIN B(2). The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs34012192
- ClinGen CA124633
- ClinVar RCV000016186
- ClinVar RCV000016187
- other
- HEMOGLOBIN A(2)-PRIME; HEMOGLOBIN B(2)
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.55
- MetaSVM -0.33
- CADD 4.48
- ClinVar: other (HEMOGLOBIN A(2)-PRIME; HEMOGLOBIN B(2))
- EBI: Benign (in Delta')
- UniProt: Benign (in Delta')
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Origin of Hb A2' (Hb B2) [delta16(A13)Gly --> Arg (GGC --> CGC)]. (PMID 12779272)
- Cited in: Studies on an abnormal minor hemoglobin component (Hb-B2). (PMID 13715995)