S22F (p.Ser22Phe) variant of LAMB3 (Laminin subunit beta-3)
S22F (p.Ser22Phe) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S22F (p.Ser22Phe) variant details
- p.Ser22Phe
- ESP rs147620922
- ExAC rs147620922
- TOPMed rs147620922
- gnomAD rs147620922
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.29
- CADD 27.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available