R41Q (p.Arg41Gln) variant of LAMC2 (Laminin subunit gamma-2)
R41Q (p.Arg41Gln) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- cosmic curated COSV51459
- TOPMed rs1658945922
- gnomAD rs1658945922
- Missense
- Variant Prioritization Score for Impact Estimate 0.0495
- REVEL 0.02
- CADD 0.88
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available