L32R (p.Leu32Arg) variant of HBB (Hemoglobin subunit beta)
L32R (p.Leu32Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN HAKKARI. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L32R (p.Leu32Arg) variant details
- p.Leu32Arg
- rs33920173
- ClinGen CA217114670
- ClinVar RCV000016810
- Ensembl rs33920173
- other
- HEMOGLOBIN HAKKARI
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: other (HEMOGLOBIN HAKKARI)
- UniProt: Other (in Yokohama)
- Structural context available
- Cited in: Hb Hakkari or alpha 2 beta 2 31(B13)Leu-->Arg, a severely unstable hemoglobin variant associated with numerous… (PMID 7558872)