L115M (p.Leu115Met) variant of HBB (Hemoglobin subunit beta)
L115M (p.Leu115Met) 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 MASUDA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L115M (p.Leu115Met) variant details
- p.Leu115Met
- rs33917394
- ClinGen CA125343
- ClinVar RCV000016486
- ClinVar RCV000016745
- other
- HEMOGLOBIN MASUDA
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.59
- ESM-1b 0.83
- AlphaMissense 0.25
- MetaLR 0.76
- MetaSVM 0.33
- CADD 22.30
- ClinVar: other (HEMOGLOBIN MASUDA)
- EBI: Benign (in Zengcheng)
- UniProt: Benign (in Zengcheng)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Hb Zengcheng or alpha 2 beta(2)114(G16)Leu----Met. (PMID 2079435)
- Cited in: Hb Iowa or alpha 2 beta 2(119)(GH2)Gly----Ala. (PMID 2283296)