R37Q (p.Arg37Gln) variant of LAMA3 (Laminin subunit alpha-3)
R37Q (p.Arg37Gln) in LAMA3 (Laminin subunit alpha-3) 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.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- TOPMed rs1276923266
- gnomAD rs1276923266
- Missense
- Variant Prioritization Score for Impact Estimate 0.0772
- REVEL 0.03
- CADD 9.45
- PolyPhen-2 0.01
- SIFT 0.77
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available