Q46R (p.Gln46Arg) variant of LAMC2 (Laminin subunit gamma-2)
Q46R (p.Gln46Arg) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
Q46R (p.Gln46Arg) variant details
- p.Gln46Arg
- TOPMed rs1268276420
- Missense
- Variant Prioritization Score for Impact Estimate 0.0762
- REVEL 0.03
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available