C30G (p.Cys30Gly) variant of LAMC2 (Laminin subunit gamma-2)
C30G (p.Cys30Gly) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C30G (p.Cys30Gly) variant details
- p.Cys30Gly
- ExAC rs766415838
- TOPMed rs766415838
- gnomAD rs766415838
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.98
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available