G7C (p.Gly7Cys) variant of LAMC2 (Laminin subunit gamma-2)
G7C (p.Gly7Cys) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- 1000Genomes rs576076077
- ExAC rs576076077
- TOPMed rs576076077
- gnomAD rs576076077
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.17
- CADD 12.40
- PolyPhen-2 0.33
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available