A11V (p.Ala11Val) variant of LAMA3 (Laminin subunit alpha-3)
A11V (p.Ala11Val) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- gnomAD 18-23689715-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.01
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available