A31S (p.Ala31Ser) variant of LAMA3 (Laminin subunit alpha-3)
A31S (p.Ala31Ser) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- gnomAD 18-23689774-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.01
- CADD 12.30
- PolyPhen-2 0.98
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available