A31V (p.Ala31Val) variant of LAMA3 (Laminin subunit alpha-3)
A31V (p.Ala31Val) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- gnomAD 18-23689775-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.00
- CADD 13.60
- PolyPhen-2 0.98
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available