L22I (p.Leu22Ile) variant of LAMA3 (Laminin subunit alpha-3)
L22I (p.Leu22Ile) 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.
L22I (p.Leu22Ile) variant details
- p.Leu22Ile
- gnomAD 18-23689747-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.03
- CADD 18.80
- PolyPhen-2 0.56
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available