Y27H (p.Tyr27His) variant of LAMB3 (Laminin subunit beta-3)
Y27H (p.Tyr27His) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Junctional epidermolysis bullosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y27H (p.Tyr27His) variant details
- p.Tyr27His
- rs757278127
- ClinGen CA1376105
- ClinVar RCV001098929
- ClinVar RCV005348314
- Uncertain significance
- Inborn genetic diseases; Junctional epidermolysis bullosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.66
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Junctional epidermolysis bullosa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)