P17S (p.Pro17Ser) variant of LAMA3 (Laminin subunit alpha-3)
P17S (p.Pro17Ser) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- gnomAD 18-23689732-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.01
- CADD 9.03
- PolyPhen-2 0.01
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available