C67Y (p.Cys67Tyr) variant of LAMB3 (Laminin subunit beta-3)
C67Y (p.Cys67Tyr) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C67Y (p.Cys67Tyr) variant details
- p.Cys67Tyr
- gnomAD rs2076427852
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.37
- CADD 26.20
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available