P7A (p.Pro7Ala) variant of LAMA3 (Laminin subunit alpha-3)
P7A (p.Pro7Ala) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- gnomAD 18-23689702-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.04
- CADD 5.02
- PolyPhen-2 0.00
- SIFT 0.92
- Population evidence available
- Structural context available
- Literature evidence available