V12I (p.Val12Ile) variant of HBB (Hemoglobin subunit beta)
V12I (p.Val12Ile) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN O (TIBESTI). The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- rs33974228
- ClinGen CA124888
- ClinVar RCV000016370
- ClinVar RCV000016863
- other
- HEMOGLOBIN O (TIBESTI)
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.52
- ESM-1b 0.51
- AlphaMissense 0.10
- MetaLR 0.46
- MetaSVM -0.59
- CADD 0.80
- ClinVar: other (HEMOGLOBIN O (TIBESTI))
- EBI: Benign (in Hamilton)
- UniProt: Benign (in Hamilton)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Hb O-Tibesti [beta121(GH4)Glu-->Lys; beta11(A8)Val-->Ile], a hemoglobin variant carrying in the same beta chain the… (PMID 11939508)
- Cited in: Identification of Hb Hamilton or beta 11(A8)Val----Ile gene by the polymerase chain reaction amplification technique. (PMID 1610915)