V2A (p.Val2Ala) variant of HBB (Hemoglobin subunit beta)
V2A (p.Val2Ala) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- rs33949930
- ClinGen CA125122
- ClinVar RCV000016563
- ClinVar RCV000781459
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.75
- MetaSVM 0.54
- CADD 23.90
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Benign (in Raleigh)
- UniProt: Benign (in Raleigh)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at… (PMID 1634360)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)