L32P (p.Leu32Pro) variant of HBB (Hemoglobin subunit beta)
L32P (p.Leu32Pro) 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 YOKOHAMA. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- rs33920173
- ClinGen CA125243
- ClinVar RCV000016647
- UniProt VAR 002915
- other
- HEMOGLOBIN YOKOHAMA
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: other (HEMOGLOBIN YOKOHAMA)
- EBI: Benign (in Yokohama)
- UniProt: Benign (in Yokohama)
- Structural context available
- Cited in: Hb Hoshida [beta 43(CD2)Glu----Gln] observed in a Yugoslavian family. (PMID 1814859)
- Cited in: A new unstable hemoglobin, Hb Yokohama beta 31 (B13)Leu substituting for Pro, causing hemolytic anemia. (PMID 7338469)