W5C (p.Trp5Cys) variant of LAMC2 (Laminin subunit gamma-2)
W5C (p.Trp5Cys) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
W5C (p.Trp5Cys) variant details
- p.Trp5Cys
- TOPMed rs1426564374
- gnomAD rs1426564374
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.20
- CADD 31.00
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available