V24D (p.Val24Asp) variant of HBB (Hemoglobin subunit beta)
V24D (p.Val24Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
V24D (p.Val24Asp) variant details
- p.Val24Asp
- rs33945546
- ClinGen CA125178
- ClinVar RCV000016608
- ClinVar RCV000985755
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- ESM-1b 1.00
- AlphaMissense 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Benign (in Strasbourg)
- UniProt: Benign (in Strasbourg)
- Structural context available
- Cited in: Hb Strasbourg alpha2beta2 20 (B2) Val leads to Asp: a variant at the same locus as Hb Olympia beta 20 Val leads to Met. (PMID 1001451)
- Cited in: Nucleotide sequence of human beta globin messenger RNA. (PMID 342458)