S105F (p.Ser105Phe) variant of LAMB3 (Laminin subunit beta-3)
S105F (p.Ser105Phe) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S105F (p.Ser105Phe) variant details
- p.Ser105Phe
- ExAC rs768605252
- TOPMed rs768605252
- gnomAD rs768605252
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.33
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available