D100V (p.Asp100Val) variant of HBB (Hemoglobin subunit beta)
D100V (p.Asp100Val) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of HEMOGLOBIN CHEMILLY; Erythrocytosis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
D100V (p.Asp100Val) variant details
- p.Asp100Val
- rs33971048
- ClinGen CA124789
- ClinVar RCV000016297
- ClinVar RCV000641428
- Pathogenic; other
- HEMOGLOBIN CHEMILLY; Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic; other (HEMOGLOBIN CHEMILLY; Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Coimbra)
- UniProt: Pathogenic (in Coimbra)
- Structural context available
- Cited in: [Erythrocytosis due to a high-affinity hemoglobulin: mutant hemoglobin Saint-Jacques beta 140 (H18) Ala----Thr with a… (PMID 6546989)