H3L (p.His3Leu) variant of HBB (Hemoglobin subunit beta)
H3L (p.His3Leu) 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 GRAZ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
H3L (p.His3Leu) variant details
- p.His3Leu
- rs33983205
- ClinGen CA125381
- ClinVar RCV000016782
- UniProt VAR 002857
- other
- HEMOGLOBIN GRAZ
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- ESM-1b 0.00
- AlphaMissense 0.20
- ClinVar: other (HEMOGLOBIN GRAZ)
- EBI: Benign (in Graz)
- UniProt: Benign (in Graz)
- Structural context available
- Cited in: Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria. (PMID 1487420)