A5T (p.Ala5Thr) variant of LAMA3 (Laminin subunit alpha-3)
A5T (p.Ala5Thr) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 18-23689696-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0505
- REVEL 0.01
- CADD 5.20
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available