T19M (p.Thr19Met) variant of LAMA3 (Laminin subunit alpha-3)
T19M (p.Thr19Met) 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.
T19M (p.Thr19Met) variant details
- p.Thr19Met
- gnomAD 18-23689739-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.07
- CADD 17.20
- PolyPhen-2 0.90
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available