L29Q (p.Leu29Gln) variant of LAMA3 (Laminin subunit alpha-3)
L29Q (p.Leu29Gln) 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.
L29Q (p.Leu29Gln) variant details
- p.Leu29Gln
- gnomAD 18-23689769-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.17
- CADD 19.60
- PolyPhen-2 0.57
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available