Q46E (p.Gln46Glu) variant of LAMC2 (Laminin subunit gamma-2)
Q46E (p.Gln46Glu) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q46E (p.Gln46Glu) variant details
- p.Gln46Glu
- gnomAD 1-183207937-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.10
- CADD 3.61
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available