S71F (p.Ser71Phe) variant of LAMB3 (Laminin subunit beta-3)
S71F (p.Ser71Phe) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S71F (p.Ser71Phe) variant details
- p.Ser71Phe
- ExAC rs756431966
- TOPMed rs756431966
- gnomAD rs756431966
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.85
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available