A5P (p.Ala5Pro) variant of LAMA3 (Laminin subunit alpha-3)
A5P (p.Ala5Pro) 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.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- gnomAD 18-23689696-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0544
- REVEL 0.01
- CADD 7.69
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available