L69P (p.Leu69Pro) variant of HBB (Hemoglobin subunit beta)
L69P (p.Leu69Pro) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atypical hemolytic-uremic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L69P (p.Leu69Pro) variant details
- p.Leu69Pro
- rs33972593
- ClinGen CA125036
- ClinVar RCV000016497
- ClinVar RCV003447476
- Likely pathogenic
- Atypical hemolytic-uremic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (Atypical hemolytic-uremic syndrome)
- EBI: Pathogenic (in Mizuho)
- UniProt: Pathogenic (in Mizuho)
- Structural context available
- Cited in: Hb Mizuho or alpha 2 beta (2)68(E12)Leu----Pro in a Caucasian boy with high levels of Hb F; identification by… (PMID 1726094)
- Cited in: HB Mizuho or alpha 2 beta 2 68(E12)Leu-->Pro in a young Dutch boy. (PMID 7558877)