T19R (p.Thr19Arg) variant of LAMA3 (Laminin subunit alpha-3)
T19R (p.Thr19Arg) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T19R (p.Thr19Arg) variant details
- p.Thr19Arg
- gnomAD 18-23689739-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.08
- CADD 15.20
- PolyPhen-2 0.81
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available