C30Y (p.Cys30Tyr) variant of LAMC2 (Laminin subunit gamma-2)
C30Y (p.Cys30Tyr) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- 1000Genomes rs142239173
- TOPMed rs142239173
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.92
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available