R6Q (p.Arg6Gln) variant of LAMA3 (Laminin subunit alpha-3)
R6Q (p.Arg6Gln) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- gnomAD 18-23689700-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.05
- CADD 16.50
- PolyPhen-2 0.04
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available