A3S (p.Ala3Ser) variant of LAMA3 (Laminin subunit alpha-3)
A3S (p.Ala3Ser) 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 and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- TOPMed rs2060540604
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.01
- CADD 17.30
- PolyPhen-2 0.13
- SIFT 0.10
- Population evidence available
- Structural context available