S105C (p.Ser105Cys) variant of LAMB3 (Laminin subunit beta-3)
S105C (p.Ser105Cys) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S105C (p.Ser105Cys) variant details
- p.Ser105Cys
- ExAC rs768605252
- TOPMed rs768605252
- gnomAD rs768605252
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.69
- CADD 24.40
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available