V12F (p.Val12Phe) variant of HBB (Hemoglobin subunit beta)
V12F (p.Val12Phe) 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 0.90 / 1. The record also includes published literature and structural context.
V12F (p.Val12Phe) variant details
- p.Val12Phe
- rs33974228
- ClinGen CA125412
- ClinVar RCV000016800
- ClinVar RCV000759071
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- ESM-1b 1.00
- AlphaMissense 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in Hamilton)
- UniProt: Uncertain significance (in Hamilton)
- Structural context available
- Cited in: Hb Washtenaw [ beta 11(A8)Val-->Phe]: an electrophorectically silent, unstable, low oxygen affinity variant associated… (PMID 7852083)