A4S (p.Ala4Ser) variant of LAMA3 (Laminin subunit alpha-3)
A4S (p.Ala4Ser) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 18-23689693-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.05
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available