P17Q (p.Pro17Gln) variant of LAMA3 (Laminin subunit alpha-3)
P17Q (p.Pro17Gln) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- gnomAD 18-23689733-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0548
- REVEL 0.05
- CADD 0.83
- PolyPhen-2 0.42
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available