R93C (p.Arg93Cys) variant of LAMB3 (Laminin subunit beta-3)
R93C (p.Arg93Cys) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R93C (p.Arg93Cys) variant details
- p.Arg93Cys
- cosmic curated COSV10591
- ExAC rs772891857
- TOPMed rs772891857
- gnomAD rs772891857
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.64
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available