F43V (p.Phe43Val) variant of HBB (Hemoglobin subunit beta)
F43V (p.Phe43Val) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemolytic anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
F43V (p.Phe43Val) variant details
- p.Phe43Val
- rs33924146
- ClinGen CA125156
- ClinVar RCV000016590
- Ensembl rs33924146
- Pathogenic
- Hemolytic anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (Hemolytic anemia)
- EBI: Pathogenic (in Bruxelles)
- UniProt: Pathogenic (in Bruxelles)
- Structural context available
- Cited in: Hb south Milwaukee [beta 105 (G7) Leu----Phe]: a newly-identified hemoglobin variant with high oxygen affinity. (PMID 2363414)
- Cited in: Hemoglobin Sendagi (beta 42 Phe----Val): a new unstable hemoglobin variant having an amino acid substitution at CD1 of… (PMID 3781864)