C67R (p.Cys67Arg) variant of LAMB3 (Laminin subunit beta-3)
C67R (p.Cys67Arg) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C67R (p.Cys67Arg) variant details
- p.Cys67Arg
- gnomAD rs1425157266
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.65
- CADD 25.80
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available