R8G (p.Arg8Gly) variant of LAMA3 (Laminin subunit alpha-3)
R8G (p.Arg8Gly) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- gnomAD 18-23689705-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.02
- CADD 15.60
- PolyPhen-2 0.13
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available