A2V (p.Ala2Val) variant of LAMA3 (Laminin subunit alpha-3)
A2V (p.Ala2Val) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 18-23689688-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.04
- CADD 20.50
- PolyPhen-2 0.31
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available