R8W (p.Arg8Trp) variant of LAMA3 (Laminin subunit alpha-3)
R8W (p.Arg8Trp) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- TOPMed rs1000956325
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.03
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available