P20T (p.Pro20Thr) variant of LAMA3 (Laminin subunit alpha-3)
P20T (p.Pro20Thr) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- gnomAD 18-23689741-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.04
- CADD 4.49
- PolyPhen-2 0.05
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available