Q36E (p.Gln36Glu) variant of LAMC2 (Laminin subunit gamma-2)
Q36E (p.Gln36Glu) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q36E (p.Gln36Glu) variant details
- p.Gln36Glu
- gnomAD 1-183207907-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.20
- CADD 8.61
- PolyPhen-2 0.25
- SIFT 0.63
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available