L21Q (p.Leu21Gln) variant of LAMA3 (Laminin subunit alpha-3)
L21Q (p.Leu21Gln) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L21Q (p.Leu21Gln) variant details
- p.Leu21Gln
- gnomAD 18-23689745-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.19
- CADD 21.80
- PolyPhen-2 0.19
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available