F4L (p.Phe4Leu) variant of LAMB3 (Laminin subunit beta-3)
F4L (p.Phe4Leu) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- rs116218572
- ClinGen CA1376143
- ClinVar RCV002655029
- ClinVar RCV004072089
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.06
- CADD 8.36
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)