R8Q (p.Arg8Gln) variant of LAMA3 (Laminin subunit alpha-3)
R8Q (p.Arg8Gln) in LAMA3 (Laminin subunit alpha-3) 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.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- TOPMed rs1217483724
- gnomAD rs1217483724
- Missense
- Variant Prioritization Score for Impact Estimate 0.049
- REVEL 0.01
- CADD 4.58
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available