H44Q (p.His44Gln) variant of LAMC2 (Laminin subunit gamma-2)
H44Q (p.His44Gln) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
H44Q (p.His44Gln) variant details
- p.His44Gln
- TOPMed rs1450921576
- gnomAD rs1450921576
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.04
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available