H3R (p.His3Arg) variant of HBD (Hemoglobin subunit delta)
H3R (p.His3Arg) 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) SPHAKIA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H3R (p.His3Arg) variant details
- p.His3Arg
- rs35433207
- ClinGen CA124659
- ClinVar RCV000016202
- UniProt VAR 003097
- other
- HEMOGLOBIN A(2) SPHAKIA
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.65
- MetaSVM -0.09
- CADD 11.70
- ClinVar: other (HEMOGLOBIN A(2) SPHAKIA)
- EBI: Benign (in Sphakia)
- UniProt: Benign (in Sphakia)
- Most common in the 1KG:PJL population (allele frequency 0.026)
- Structural context available
- Cited in: Hemoglobin Sphakiá: a delta-chain variant of hemoglobin A2 from Crete. (PMID 5909792)