L12P (p.Leu12Pro) variant of LAMA3 (Laminin subunit alpha-3)
L12P (p.Leu12Pro) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 18-23689718-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.059
- REVEL 0.02
- CADD 6.77
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available