P7T (p.Pro7Thr) variant of LAMA3 (Laminin subunit alpha-3)
P7T (p.Pro7Thr) 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.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD 18-23689702-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.03
- CADD 8.83
- PolyPhen-2 0.01
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available